polydactyly

Summary

Summary: A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.

Top Publications

  1. ncbi Polydactyly and genes
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 77:277-81. 2010
  2. ncbi Polydactyly and ectopic ZPA formation in Alx-4 mutant mice
    S Qu
    Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
    Development 124:3999-4008. 1997
  3. ncbi Limb malformations and the human HOX genes
    Frances R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, England
    Am J Med Genet 112:256-65. 2002
  4. pmc Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
    Jennifer J Johnston
    National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 76:609-22. 2005
  5. ncbi A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
    Laura A Lettice
    MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh EH4 2XU, Scotland, UK
    Hum Mol Genet 12:1725-35. 2003
  6. pmc The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling
    Megan G Davey
    Division of Cell and Developmental Biology, Wellcome Trust Biocentre WTB, University of Dundee, Dundee DD1 5EH, United Kingdom
    Genes Dev 20:1365-77. 2006
  7. pmc Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly
    Laura A Lettice
    MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Dev Cell 22:459-67. 2012
  8. ncbi Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly
    Vincent Marion
    Laboratoire Physiopathologiedes syndromes rareshéréditaires, INSERM Avenir, Universite de Strasbourg, Strasbourg, France
    J Med Genet 49:317-21. 2012
  9. pmc Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice
    Malgorzata E Quinn
    Division of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
    Hum Mol Genet 21:1888-96. 2012
  10. ncbi Genomic regions associated with dermal hyperpigmentation, polydactyly and other morphological traits in the Silkie chicken
    Ben Dorshorst
    Department of Poultry Science, North Carolina State University, 134E Scott Hall, Campus Box 7608, NC 27695, USA
    J Hered 101:339-50. 2010

Detail Information

Publications245 found, 100 shown here

  1. ncbi Polydactyly and genes
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 77:277-81. 2010
    ..Genetics of hand development and genes involved in polydactyly syndromes is discussed in this article as a prototype to know about genetics of malformations: how it is ..
  2. ncbi Polydactyly and ectopic ZPA formation in Alx-4 mutant mice
    S Qu
    Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
    Development 124:3999-4008. 1997
    ..and mice homozygous for targeted disruption of the Alx-4 gene have multiple abnormalities, including preaxial polydactyly. The polydactyly is associated with the formation of an ectopic anterior ZPA, as indicated by anterior ..
  3. ncbi Limb malformations and the human HOX genes
    Frances R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, England
    Am J Med Genet 112:256-65. 2002
    ..Limb malformations may also result from chromosomal deletions involving the HOXD and HOXA clusters, and from regulatory mutations affecting single or multiple HOX genes...
  4. pmc Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
    Jennifer J Johnston
    National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 76:609-22. 2005
    ..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
  5. ncbi A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
    Laura A Lettice
    MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh EH4 2XU, Scotland, UK
    Hum Mol Genet 12:1725-35. 2003
    ..Here, we show that the chromosome 7q36 associated preaxial polydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh regulatory element...
  6. pmc The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling
    Megan G Davey
    Division of Cell and Developmental Biology, Wellcome Trust Biocentre WTB, University of Dundee, Dundee DD1 5EH, United Kingdom
    Genes Dev 20:1365-77. 2006
    ..These results suggest that the talpid3 protein operates in the cytoplasm to regulate the activity of both Gli repressor and activator proteins...
  7. pmc Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly
    Laura A Lettice
    MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Dev Cell 22:459-67. 2012
    ..Two point mutations within the ZRS change the profile of ETS binding and activate Shh expression at an ectopic site in the limb bud. These molecular changes define a pathogenetic mechanism that leads to preaxial polydactyly (PPD).
  8. ncbi Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly
    Vincent Marion
    Laboratoire Physiopathologiedes syndromes rareshéréditaires, INSERM Avenir, Universite de Strasbourg, Strasbourg, France
    J Med Genet 49:317-21. 2012
    ..Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive impairment, and kidney dysfunction...
  9. pmc Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice
    Malgorzata E Quinn
    Division of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
    Hum Mol Genet 21:1888-96. 2012
    ..GLI3, a mediator of hedgehog signaling, is a genetic cause of limb malformations including pre- and postaxial polydactyly, Pallister-Hall syndrome and Greig cephalopolysyndactyly...
  10. ncbi Genomic regions associated with dermal hyperpigmentation, polydactyly and other morphological traits in the Silkie chicken
    Ben Dorshorst
    Department of Poultry Science, North Carolina State University, 134E Scott Hall, Campus Box 7608, NC 27695, USA
    J Hered 101:339-50. 2010
    ..A single SNP in a highly conserved cis-regulatory region of Sonic Hedgehog was significantly associated with polydactyly (Po)...
  11. pmc Preaxial polydactyly: interactions among ETV, TWIST1 and HAND2 control anterior-posterior patterning of the limb
    Zhen Zhang
    Laboratory of Genetics, University of Wisconsin Madison, Madison, WI 53706, USA
    Development 137:3417-26. 2010
    Preaxial polydactyly (PPD) is a common limb-associated birth defect characterized by extra digit(s) in the anterior autopod. It often results from ectopic sonic hedgehog (Shh) expression in the anterior limb bud...
  12. ncbi Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri, USA
    Am J Med Genet A 143:27-32. 2007
    ..highly conserved ZRS have been described in the hemimelic extra toes mouse and in four families with preaxial polydactyly [Lettice et al., 2003]...
  13. ncbi The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development
    Ian C Dunn
    Division of Genetics and Genomics, The Roslin Institute and Royal Dick School of Veterinary Studies, University of Edinburgh, Roslin, Midlothian, UK
    Dev Dyn 240:1163-72. 2011
    ..ZRS region of Lmbr1, a limb specific cis-regulatory element of Sonic hedgehog (Shh), are associated with polydactyly in humans, cats, and mice...
  14. ncbi Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A
    Umm E Kalsoom
    Department of Biochemistry, Quaid i Azam University Islamabad, Islamabad, Pakistan
    J Med Genet 50:47-53. 2013
    Postaxial polydactyly (PAP) type A is characterised by well-formed functionally developed 5th digit duplication in hands and/or feet. It is genetically heterogeneous condition, inherited both in autosomal recessive and dominant manners...
  15. ncbi The bHLH transcription factor dHAND controls Sonic hedgehog expression and establishment of the zone of polarizing activity during limb development
    J Charite
    Department of Molecular Biology, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390 9148, USA
    Development 127:2461-70. 2000
    ..by ectopic expression of Shh and its target genes, and resulting limb abnormalities that include preaxial polydactyly with duplication of posterior skeletal elements...
  16. pmc FGF-regulated Etv genes are essential for repressing Shh expression in mouse limb buds
    Zhen Zhang
    Laboratory of Genetics, University of Wisconsin Madison, Madison, WI 53706, USA
    Dev Cell 16:607-13. 2009
    ..factor genes Etv4 and Etv5 in mouse led to ectopic Shh expression in the anterior limb bud and a preaxial polydactyly (PPD) skeletal phenotype...
  17. ncbi Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities
    Laura A Lettice
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK
    Curr Opin Genet Dev 15:294-300. 2005
    ..limb-specific regulatory element of the SHH gene are responsible for the human limb abnormality called preaxial polydactyly (PPD)...
  18. ncbi Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly
    S Qu
    Departments of Biochemistry and Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
    Development 125:2711-21. 1998
    ..Alx4 haploinsufficiency and the importance of strain-specific modifiers leading to polydactyly are indicative of a critical threshold requirement for Alx4 in a genetic program operating to restrict ..
  19. pmc Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway
    Victoria L Patterson
    Mammalian Genetics Unit, MRC Harwell, Harwell Science and Innovation Campus, Oxon, UK
    Hum Mol Genet 18:1719-39. 2009
    ..of Shh signalling leads to multiple birth defects, including holoprosencephaly, neural tube defects and polydactyly, and in adults results in tumours of the skin or central nervous system...
  20. ncbi Distribution of polarizing activity and potential for limb formation in mouse and chick embryos and possible relationships to polydactyly
    M Tanaka
    Department of Anatomy and Physiology, Wellcome Trust Biocentre, University of Dundee, Dow Street, Dundee DD1 5EH, UK
    Development 127:4011-21. 2000
    ..Taken together these observations suggest that naturally occurring polydactyly could involve recruitment of cells from regions adjacent to the limb buds...
  21. ncbi A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, Essen 45122, Germany
    Hum Mutat 31:81-9. 2010
    ..with unknown molecular etiology characterized by hypo- or aplasia of the tibiae in addition to the preaxial polydactyly (PPD) of the hands and feet and/or five-fingered hand with absence of thumbs...
  22. ncbi Progression of vertebrate limb development through SHH-mediated counteraction of GLI3
    Pascal te Welscher
    Department of Developmental Biology, Faculty of Biology, Utrecht University, Padualaan 8, NL 3584 CH Utrecht, Netherlands
    Science 298:827-30. 2002
    ..duplications and has been suspected as a major cause underlying congenital malformations that result in digit polydactyly. Here, we report that the polydactyly of Gli3-deficient mice arises independently of SHH signaling...
  23. ncbi Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly
    Yan Qun Huang
    State Key Laboratory of Biotechnology, China Agricultural University, Beijing, 1000094 China
    Gene 374:10-8. 2006
    b>Polydactyly is a common malformation of vertebrate limbs. Preaxial polydactyly (PPD) has been mapped in human, mouse and chicken to the syntenic region of human 7q36...
  24. pmc De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
    Ghayda M Mirzaa
    1 Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, Washington, USA 2 Department of Pediatrics, University of Washington, Seattle, Washington, USA 3
    Nat Genet 46:510-5. 2014
    ..genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387)...
  25. ncbi Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch
    J Sharpe
    Division of Developmental Neurobiology, MRC National Institute for Medical Research, The Ridgeway Mill Hill, London, NW7 1AA, UK
    Curr Biol 9:97-100. 1999
    ..lst, Dh, Xt, and the more recently identified Hx, Xpl and Rim4; [1] [2] [3] [4] [5]) have in common preaxial polydactyly and longbone abnormalities...
  26. ncbi Role of dHAND in the anterior-posterior polarization of the limb bud: implications for the Sonic hedgehog pathway
    M Fernandez-Teran
    Departamento de Anatomia y Biologia Celular, Universidad de Cantabria, Spain
    Development 127:2133-42. 2000
    ..Retroviral overexpression of dHAND in the limb bud produced preaxial polydactyly, corresponding to mild polarizing activity at the anterior border...
  27. ncbi Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling
    Y Yang
    Department of Molecular and Cellular Biology, The Biolabs, Harvard University, Cambridge, MA 02138, USA
    Development 125:3123-32. 1998
    ..Several naturally occurring mouse mutations with the phenotype of preaxial polydactyly exhibit ectopic Shh expression at the anterior limb margin...
  28. ncbi Polydactyly: how many disorders and how many genes?
    Leslie G Biesecker
    National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
    Am J Med Genet 112:279-83. 2002
    Disorders that include polydactyly as a manifestation are diverse and numerous...
  29. ncbi Congenital benign teratoma of the tongue with bifid tip, ankyloglossia and polydactyly: report of a case
    Neelam N Andrade
    Department of Oral and Maxillo Facial Surgery, Nair Hospital Dental College, Dr A L Nair Road, Mumbai 400008, India
    Br J Oral Maxillofac Surg 48:e29-30. 2010
    ..We describe a combination of anomalies in a 6-week-old infant with teratoma and bifid tip of the tongue, severe tongue tie, and polydactyly. The teratoma was excised and the tongue tie released with no complications.
  30. ncbi Effects of electromagnetic pulse on polydactyly of mouse fetuses
    Ming Juan Yang
    Department of Radiation Medicine and the Ministry of Education Key Lab of Hazard Assessment and Control in Special Operational Environment, School of Public Health, Fourth Military Medical University, Xi an, Shaanxi, China
    Theriogenology 80:18-23. 2013
    ..To determine the effects of electromagnetic pulse (EMP) on polydactyly of mouse fetuses, pregnant mice were sham-exposed or exposed to EMP (400 kV/m with 400 pulses) from Days 7 to ..
  31. ncbi Single base pair change in the long-range Sonic hedgehog limb-specific enhancer is a genetic basis for preaxial polydactyly
    Sarah A Maas
    Department of Biomolecular Chemistry, University of Wisconsin, Madison, WI 53706, USA
    Dev Dyn 232:345-8. 2005
    In most instances of preaxial polydactyly (PPD), Sonic Hedgehog (Shh), an essential limb patterning signal, is ectopically expressed in an anterior region of the developing limb in addition to the normal posterior domain...
  32. pmc Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus
    T D Howard
    Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287 3914, USA
    Am J Hum Genet 61:1405-12. 1997
    ..acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature...
  33. ncbi Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree
    Baowen Cheng
    Key Laboratory of Bioresources Conservation and Utilization, Human Genetics Center of Yunnan University, Yunnan, P R China
    J Clin Lab Anal 20:133-8. 2006
    b>Polydactyly is one of the most common forms of congenital malformation in humans, and is displayed by 119 disorders...
  34. ncbi Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1
    David A Koolen
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands
    J Hum Genet 51:721-6. 2006
    ..HPE, epilepsy, mild pyramidal syndrome of the legs, ventricular septal defect, vesicoureteral reflux, preaxial polydactyly, and facial dysmorphisms...
  35. pmc Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly
    Eva Klopocki
    Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    Eur J Hum Genet 20:705-8. 2012
    ..In addition, one affected individual showed a polydactyly and right-sided tibial hemimelia...
  36. ncbi The expression of preaxial polydactyly is influenced by modifying genetic elements and is not maintained by chromosomal inversion in an avian biomedical model
    E A Robb
    Department of Animal Science, University of California, Davis, CA 95616, USA
    Cytogenet Genome Res 136:50-68. 2012
    b>Polydactyly (Po) is a common mutation found in many vertebrates. The UCD-Po.003 congenic chicken line was previously characterized for Po inheritance (autosomal dominant) and the mutation was mapped to chromosome 2p...
  37. pmc Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog
    Christian Babbs
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK
    Mech Dev 125:517-26. 2008
    The mouse mutant Doublefoot (Dbf) shows preaxial polydactyly with 6-9 triphalangeal digits in all four limbs and additional abnormalities including a broadened skull, hydrocephalus, and a thickened, kinked tail...
  38. ncbi Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I
    H Fujioka
    Department of Plastic Surgery, Hokkaido University Graduate School of Medicine, Hokkaido 060 8638, Japan
    Clin Genet 67:429-33. 2005
    ..of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly...
  39. ncbi Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes
    C N Semerci
    Department of Medical Biology, Center for Genetic Diagnosis, School of Medicine, Pamukkale University, Denizli, Turkey
    Clin Genet 76:85-90. 2009
    Preaxial polydactyly is a common limb malformation in humans with variable clinical expression. Different types of triphalangeal thumb-preaxial polydactyly phenotypes were mapped to the chromosome 7q36 region...
  40. ncbi Late psychosocial effects of congenital hand anomaly
    Metin Manouchehr Eskandari
    Department of Orthopedics and Traumatology, University of Mersin, School of Medicine, Mersin, Turkey
    Hand Surg 9:257-9. 2004
    ..Herein, two adult cases of untreated thumb polydactyly are presented. Both of them had hands with striking appearance and late consequent psychosocial problems.
  41. pmc De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones
    M B Delatycki
    J Med Genet 40:e92. 2003
  42. ncbi Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings
    H G Tore
    Department of Radiology, Baskent University Faculty of Medicine, Ankara, Turkey
    AJNR Am J Neuroradiol 30:1620-2. 2009
    Megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome has been recently recognized and is very rare. Each case reported so far has demonstrated hydrocephalus to varying degrees...
  43. ncbi The Fused toes (Ft) mouse mutation causes anteroposterior and dorsoventral polydactyly
    Lars Grotewold
    Institut für Entwicklungs und Molekularbiologie der Tiere EMT, Heinrich Heine Universitat, 40225 Dusseldorf, Germany
    Dev Biol 251:129-41. 2002
    ..distal truncations of skeletal elements as well as an anteroposterior and an unusual form of dorsoventral polydactyly. Ectopic activation of the Shh signalling cascade in the distal-most mesoderm together with malformations of ..
  44. ncbi Thumb polydactyly: clinical outcome after reconstruction
    C H Yen
    Department of Orthopaedics and Traumatology, Kwong Wah Hospital, Yaumatei, Hong Kong
    J Orthop Surg (Hong Kong) 14:295-302. 2006
    To evaluate clinical and cosmetic outcomes of reconstruction in thumb polydactyly and prognostic value of the Wassel classification.
  45. ncbi Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?
    Helga V Toriello
    Spectrum Health Genetics Services, Grand Rapids, MI, USA
    Clin Dysmorphol 11:19-23. 2002
    We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS)...
  46. ncbi Thumb/hallux duplication and preaxial polydactyly type I
    I M Orioli
    ECLAMC Latin American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects at Departamento de Genética, Universidade Federal do Rio de Janeiro, Brazil
    Am J Med Genet 82:219-24. 1999
    It was recently shown that hand postaxial polydactyly differed from foot postaxial polydactyly...
  47. pmc Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS
    Muhammad Farooq
    Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering NIBGE, Faisalabad, Pakistan
    Eur J Hum Genet 18:733-6. 2010
    ..on transcription factor binding of a novel ZRS point mutation (463T>G) in a Pakistani family with preaxial polydactyly and triphalangeal thumb...
  48. ncbi Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
    Ghayda M Mirzaa
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet A 158:269-91. 2012
    ..malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of ..
  49. ncbi Maternal cigarette smoking during pregnancy increases the risk of having a child with a congenital digital anomaly
    Li Xing Man
    Division of Plastic Surgery, Health System, School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
    Plast Reconstr Surg 117:301-8. 2006
    The U.S. Natality database from 2001 and 2002 was used to investigate the relationship between maternal cigarette smoking during pregnancy and the risk of having a child with polydactyly, syndactyly, or adactyly.
  50. ncbi Polydactyly of the feet in children: suggestions for surgical management
    S E Morley
    Department of Plastic Surgery, Great Ormond Street Hospital, London, UK
    Br J Plast Surg 54:34-8. 2001
    b>Polydactyly is the commonest congenital deformity of the foot, presenting as a range of defects from minor soft tissue duplications to major bony abnormalities...
  51. ncbi 14q(22) deletion in a familial case of anophthalmia with polydactyly
    M E Ahmad
    Genetics Division, Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, India
    Am J Med Genet A 120:117-22. 2003
    ..The proband, his three sisters, and two sons had anophthalmia and preaxial polydactyly in the right hand. Cytogenetic analysis was done for the proband and two of his sons, one of whom was affected...
  52. ncbi Thumb size and appearance following reconstruction of radial polydactyly
    Charles A Goldfarb
    Department of Orthopaedic Surgery, Washington University School of Medicine, St Louis, MO 63110, USA
    J Hand Surg Am 33:1348-53. 2008
    To evaluate thumb size, shape, and appearance after surgical correction of radial polydactyly.
  53. ncbi Deletion of a conserved noncoding sequence in Plzf intron leads to Plzf down-regulation in limb bud and polydactyly in the rat
    Frantisek Liska
    Institute of Biology and Medical Genetics of the 1st Faculty of Medicine and General Teaching Hospital, Charles University in Prague, Praha, Czech Republic
    Dev Dyn 238:673-84. 2009
    Lx mutation in SHR.Lx rat manifests in homozygotes as hindlimb preaxial polydactyly. It was previously mapped to a chromosome 8 segment containing the Plzf gene...
  54. pmc A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb
    Tobias Laurell
    Department of Clinical Science and Education, Sodersjukhuset, Karolinska Institutet, Stockholm, Sweden
    Hum Mutat 33:1063-6. 2012
    ..have been proposed based on the limb phenotype; single base changes throughout the region cause preaxial polydactyly (PPD), single base changes at one specific site cause Werner mesomelic syndrome, and large duplications cause ..
  55. ncbi CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant
    Tatsuya Furuichi
    Center for Genomic Medicine, RIKEN, Tokyo, Japan
    J Med Genet 48:32-7. 2011
    ..Mutations in the gene that encodes for CANT1 (calcium-activated nucleotidase 1) have been identified in a subset of patients with DD type 1...
  56. ncbi Treatment of lateral ray polydactyly of the foot: focusing on the selection of the toe to be excised
    Hirokazu Uda
    Department of Plastic and Reconstructive Surgery, Jichi Medical School, Tochigi, Japan
    Plast Reconstr Surg 109:1581-91. 2002
    The purposes of this study were to evaluate the results of the operative treatment of lateral ray polydactyly and to consider appropriate surgical procedures, especially focusing on the selection of the toe, lateral toe or medial toe, to ..
  57. ncbi Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly
    J Albuisson
    CHU Nantes, Service de Genetique Medicale, 9 quai Moncousu, Nantes Cedex 01, France
    Clin Genet 79:371-7. 2011
    Pre-axial polydactyly type II (PPDII, MIM #174500), Werner mesomelic syndrome (MIM %188770) and Haas polysyndactyly (MIM #186200) are a group of closely related conditions caused by mutations in a long-range Sonic hedgehog (SHH, MIM *..
  58. ncbi A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
    Shinji Kondoh
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto, Japan
    J Hum Genet 47:136-9. 2002
    Mirror-image polydactyly of hands and feet (MIP) is a very rare congenital anomaly characterized by mirror-image duplication of digits...
  59. ncbi A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?
    Anne M Slavotinek
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet A 129:69-72. 2004
    ..caused by complete lack of Müllerian fusion with vaginal agenesis or Müllerian aplasia (MA), postaxial polydactyly (PAP), and tetralogy of Fallot...
  60. ncbi Congenital malformations among infants whose mothers had gestational diabetes or preexisting diabetes
    A Aberg
    The Department of Obstetrics and Gynaecology, Lund University Hospital, S 221 85, Lund, Sweden
    Early Hum Dev 61:85-95. 2001
    ..Diabetes type 1 is associated with an increased risk for infant congenital malformations. It is debated whether this is true also at gestational diabetes...
  61. ncbi Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly
    Laura A Lettice
    MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh EH4 2XU, UK
    Hum Mol Genet 17:978-85. 2008
    ..The congenital abnormality preaxial polydactyly, extra digits, is an example of this novel class of mutations and is caused by ectopic expression of the ..
  62. pmc Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Hum Mutat 31:1142-54. 2010
    ..with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable ..
  63. ncbi DACH: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homologue
    J A Ayres
    Craniofacial Development Section, NIAMS, National Institutes of Health, Bethesda, Maryland 20892 2745, USA
    Genomics 77:18-26. 2001
    ..Data suggest genetic linkage of the limb bud patterning defect postaxial polydactyly type A (designated PAP-A2, MIM 602085) to a 28-cM interval on chromosome 13 that includes DACH...
  64. pmc De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models
    E Elson
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, UK
    J Med Genet 39:804-6. 2002
    Acrocallosal syndrome (ACS) is characterised by postaxial polydactyly, hallux duplication, macrocephaly, and absence of the corpus callosum, usually with severe developmental delay...
  65. ncbi Ftm is a novel basal body protein of cilia involved in Shh signalling
    Jeanette Vierkotten
    Institut für Entwicklungs und Molekularbiologie der Tiere EMT, Heinrich Heine Universitat, 40225 Dusseldorf, Germany
    Development 134:2569-77. 2007
    ..Furthermore, the absence of Ftm in arthropods underlines the divergence between vertebrate and Drosophila Hh pathways...
  66. ncbi [A case-control study on genetic and environmental factors regarding polydactyly and syndactyly]
    Jia you Luo
    Department of Maternal and Child Health, Central South University, Changsha 410008, China
    Zhonghua Liu Xing Bing Xue Za Zhi 30:903-6. 2009
    To explore the genetic and environmental factors related to the development of polydactyly and syndactyly, and to provide evidence for prevention on birth defects.
  67. ncbi Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures
    G Mirzaa
    Arabian Gulf University, College of Medicine and Medical Sciences, Manama, Bahrain
    Neuropediatrics 35:353-9. 2004
    ..We report five unrelated children with severe congenital MEG associated with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD).
  68. pmc Fgf-dependent Etv4/5 activity is required for posterior restriction of Sonic Hedgehog and promoting outgrowth of the vertebrate limb
    Junhao Mao
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
    Dev Cell 16:600-6. 2009
    ..This study identifies another level of genetic interaction between the orthogonal axes during limb development...
  69. ncbi Direct interaction with Hoxd proteins reverses Gli3-repressor function to promote digit formation downstream of Shh
    Yuting Chen
    Laboratory of Pathology, Center for Cancer Research, NCI, NIH, Bethesda, MD 20892, USA
    Development 131:2339-47. 2004
    ..Enforced expression of any of several 5'Hoxd genes causes polydactyly of different distinct digit types with posterior transformations in a Gli3(+) background, whereas, in Gli3 null ..
  70. ncbi Misexpression of Sox9 in mouse limb bud mesenchyme induces polydactyly and rescues hypodactyly mice
    Haruhiko Akiyama
    Department of Orthopaedics, Kyoto University, Kyoto 606 8507, Japan
    Matrix Biol 26:224-33. 2007
    ..The mutant mouse embryos exhibited polydactyly in limb buds in association with ectopic expression of Sox5 and Sox6 although markers for the different axes of ..
  71. ncbi Classification of the mirror hand-multiple hand spectrum
    M M Al Qattan
    Division of Plastic Surgery, King Fahad National Guard Hospital and King Saud University, Riyadh, Saudi Arabia
    J Hand Surg Br 23:534-6. 1998
    ..A rare variant of mirror hand is described. The hand had eight fingers and the forearm contained an ulna and a hypoplastic radius. A classification of the mirror hand-multiple hand spectrum is offered and its embryology discussed...
  72. pmc A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb
    Dominic Furniss
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Hum Mol Genet 17:2417-23. 2008
    A locus for triphalangeal thumb, variably associated with pre-axial polydactyly, was previously identified in the zone of polarizing activity regulatory sequence (ZRS), a long range limb-specific enhancer of the Sonic Hedgehog (SHH) gene ..
  73. ncbi Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes
    Karen W Gripp
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 149:868-76. 2009
    ..patients with macrocephaly and polymicrogyria, and additional anomalies seen in megalencephaly polymicrogyria-polydactyly hydrocephalus (MPPH) and macrocephaly capillary malformation (MCM) syndromes...
  74. pmc What you can learn from one gene: GLI3
    L G Biesecker
    National Human Genome Research Institute, 49 Convent Drive Room 4A80, Bethesda, MD 20892 4472, USA
    J Med Genet 43:465-9. 2006
    ..These topics are reviewed in turn, in the context of the clinical and biological data derived from patients with mutations in GLI3 and experimental work in model systems...
  75. ncbi Bapx1 homeobox gene gain-of-function mice show preaxial polydactyly and activated Shh signaling in the developing limb
    Carla Tribioli
    Institute of Molecular Genetics, CNR, Pavia, Italy
    Dev Dyn 235:2483-92. 2006
    ..We show that transgenic mice overexpressing Bapx1 are affected by skeletal defects including hindlimb preaxial polydactyly and tibial hypoplasia...
  76. pmc Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
    A David
    Department of Paediatrics and Human Genetics, Nantes University Hospital, France
    J Med Genet 36:599-603. 1999
    ..reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect...
  77. ncbi Ciliary biology: understanding the cellular and genetic basis of human ciliopathies
    Magdalena Cardenas-Rodriguez
    Universidad de la Republica, Uruguay
    Am J Med Genet C Semin Med Genet 151:263-80. 2009
    ....
  78. ncbi Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins
    Dominique Bremond-Gignac
    Department of Ophthalmology, Robert Debre Hospital, Paris, France
    Am J Med Genet A 134:422-5. 2005
    ..5 years. The singleton patient showed typical WAGR syndrome and preaxial hallucal polydactyly. Molecular cytogenetic studies refined the identification of the extent of the deleted segments, which were not ..
  79. ncbi Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh)
    Tomoko Sagai
    Mammalian Genetics Laboratory, National Institute of Genetics, Yata 1111, Mishima, Shizuoka ken 411 8540, Japan
    Mamm Genome 15:23-34. 2004
    ..Absence of the conserved sequence in limbless reptiles and amphibians and a cis- trans test using the Hx and Shh KO alleles suggest that the sequence is a cis-acting regulator that controls the polarized expression of Shh...
  80. ncbi Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome
    Jeffrey W Innis
    Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA
    Am J Med Genet A 131:77-81. 2004
    ....
  81. pmc Developmental mechanisms underlying polydactyly in the mouse mutant Doublefoot
    Alexandra P Crick
    Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK
    J Anat 202:21-6. 2003
    ....
  82. ncbi Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case
    L Garavelli
    Department of Pediatrics and Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
    Neuropediatrics 38:200-3. 2007
    ..patients with a new MCA/MR syndrome characterized by severe congenital MEG with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD)...
  83. ncbi Associated anomalies in individuals with polydactyly
    E E Castilla
    ECLAMC at Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil
    Am J Med Genet 80:459-65. 1998
    An epidemiological analysis of the association of polydactyly with other congenital anomalies was performed in 5,927 consecutively born polydactyly cases...
  84. ncbi The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development
    M Takahashi
    The Salk Institute for Biological Studies, Gene Expression Laboratory, La Jolla, CA 92037 1099, USA
    Development 125:4417-25. 1998
    ..This deletion, which leads to a frame shift and a truncation of the Alx-4 protein, could cause the polydactyly phenotype observed in lstJ [corrected] mice...
  85. ncbi A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice
    R M Clark
    Department of Developmental Biology, Stanford University, California 94305 5327, USA
    Genomics 67:19-27. 2000
    b>Polydactyly is a common malformation of vertebrate limbs. In humans a major locus for nonsyndromic pre-axial polydactyly (PPD) has been mapped previously to 7q36...
  86. ncbi A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36
    H C Heus
    Department of Clinical Genetics, Erasmus University Rotterdam, Rotterdam, 3000 DR, The Netherlands
    Genomics 57:342-51. 1999
    Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1...
  87. pmc Morphogenesis of Doublefoot (Dbf), a mouse mutant with polydactyly and craniofacial defects
    C Hayes
    Department of Human Anatomy, University of Oxford, UK
    J Anat 193:81-91. 1998
    ..The major phenotypic features involve the limb and craniofacial regions. There is polydactyly of all 4 limbs, with typically 6-8 digits per limb...
  88. ncbi A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail
    M A Guven
    Department of Obstetrics and Gynecology, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey
    Genet Couns 19:419-24. 2008
    We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly. A 30-year-old woman at 16 weeks of gestation with dichorionic twins was admitted to the hospital...
  89. pmc The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations
    U Radhakrishna
    Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland
    Am J Hum Genet 65:645-55. 1999
    ..GLI3 gene have been identified in Greig cepalopolysyndactyly, Pallister-Hall syndrome (PHS), and postaxial polydactyly type-A (PAP-A)...
  90. ncbi Sonic hedgehog is not required for polarising activity in the Doublefoot mutant mouse limb bud
    C Hayes
    Department of Human Anatomy, University of Oxford, UK
    Development 125:351-7. 1998
    The mouse mutant Doublefoot (Dbf) shows preaxial polydactyly of all four limbs. We have analysed limb development in this mutant with respect to morphogenesis, gene expression patterns and ectopic polarising activity...
  91. ncbi How to make a zone of polarizing activity: insights into limb development via the abnormality preaxial polydactyly
    Robert E Hill
    MRC Human Genetics Unit, Western General Hospital, Crewe Rd, Edinburgh, EH4 2XU, UK
    Dev Growth Differ 49:439-48. 2007
    ..Preaxial polydactyly (PPD) is a commonly occurring limb abnormality; investigating the genetic basis of this defect has provided ..
  92. pmc GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization
    S H Shin
    National Institutes of Health, National Human Genome Research Institute, Genetic Disease Research Branch, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 96:2880-4. 1999
    ..factor can cause Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome (PHS), and postaxial polydactyly type A (PAP-A)...
  93. pmc Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
    Laura A Lettice
    Medical Research Council Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, United Kingdom
    Proc Natl Acad Sci U S A 99:7548-53. 2002
    Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits...
  94. ncbi A duplicated zone of polarizing activity in polydactylous mouse mutants
    H Masuya
    Mammalian Genetics Laboratory, National Institute of Genetics, Mishima, Japan
    Genes Dev 9:1645-53. 1995
    ..All results indicate the presence of an additional ZPA at the anterior margin of limb buds in these mutants. Thus, it appears that multiple endogenous genes regulate the spatial localization of the ZPA in the developing mouse limb bud...
  95. ncbi Postaxial polydactyly in forelimbs of CRABP-II mutant mice
    D Fawcett
    Division of Endocrinology, Hospital for Sick Children, Toronto, Canada
    Development 121:671-9. 1995
    ..This developmental abnormality implies a role for CRABP-II in normal patterning of the limb...
  96. ncbi Doublefoot: a new mouse mutant affecting development of limbs and head
    M F Lyon
    Mammalian Genetics Unit, Medical Research Council, Didcot, Oxfordshire, UK
    Genet Res 68:221-31. 1996
    ..The gene maps close to the locus of Pax3, but crossovers between Dbf and Pax3 have been found, ruling out the possibility that a gain-of-function mutation in Pax3 might be involved...
  97. ncbi Mutation in GLI3 in postaxial polydactyly type A
    U Radhakrishna
    Nat Genet 17:269-71. 1997
  98. ncbi Hydrocephalus manifestation in the genetic polydactyly/ arhinencephaly mouse (Pdn/Pdn)
    Ichiro Naruse
    School of Health Science, Faculty of Medicine, Tottori University, Yonago, Tottori 683 8503, Japan
    Congenit Anom (Kyoto) 42:27-31. 2002
    The genetic polydactyly/arhinencephaly mouse, Pdn/Pdn, exhibits severe polydactyly both in the fore- and hindlimbs, hydrocephalus, and agenesis of the olfactory bulbs, corpus callosum, and anterior commissure...
  99. ncbi Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis
    Stephanie Burns Wechsler
    Department of Pediatrics, University of Michigan Health System, Ann Arbor, Michigan, USA
    Clin Dysmorphol 13:63-9. 2004
    ..We report the first female patient with this syndrome. The patient had tibial aplasia, mirror image preaxial polydactyly involving her feet, brachyphalangy, genital hypoplasia as well as facial dysmorphism including telecanthus, ..
  100. ncbi A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9
    Barbara Kloeckener-Gruissem
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Switzerland
    Am J Med Genet A 136:31-7. 2005
    ..Another rare condition, ischiadic hypoplasia, renal dysgenesis, immunodeficiency, and polydactyly (IHRDIP, OMIM#243340), displays features that resemble those of the ICF syndrome...
  101. ncbi Meckel syndrome: genetics, perinatal findings, and differential diagnosis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 46:9-14. 2007
    ..encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e...

Research Grants36

  1. The role of IFT80 in bone formation
    Shuying Yang; Fiscal Year: 2013
    ..Conditional ablation of IFT88 disrupts hedgehog signaling, with polydactyly and defects of endochondral bone formation...
  2. Functional Characterization of the Chlamydomonas CEP290/Nephrocystin-6 Homologue
    Branch Craige; Fiscal Year: 2010
    ..been linked to defects in cilia: cystic kidney disease or nephronophthisis, retinal degeneration and blindness, polydactyly, defects in the central nervous system, liver fibrosis, and in the case of BBS,obesity...
  3. Reversible phosphorylation in Hedgehog signaling
    ALAN ZHU; Fiscal Year: 2013
    ..Misregulation of Hh signaling in humans results in various forms of birth defects, including holoprosencephaly, polydactyly, spina bifida, and heart and skeletal malformations...
  4. Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research
    DANIEL A DOHERTY; Fiscal Year: 2013
    ..delay, ataxia, and variable features such as cystic renal disease, retinal dystrophy, hepatic fibrosis, and polydactyly. JS is a member of a new group of disorders called "ciliopathies" because all ten causal genes have been ..
  5. Jouberin and Nephrocystin in Joubert Syndrome
    Joseph G Gleeson; Fiscal Year: 2013
    ..brain anomalies, mental retardation and ataxia, with frequent accompanying retinal blindness, renal failure, polydactyly and hepatic fibrosis...
  6. Treatment of a Complex Retinal Degenerative Syndrome
    Val C Sheffield; Fiscal Year: 2013
    ..BBS is a pleiotropic disorder with the primary clinical features of pigmentary retinopathy, obesity, polydactyly, learning disabilities, renal abnormalities and hypogenitalism...
  7. The role of Twist family bHLH factors in limb morphogenesis
    Anthony B Firulli; Fiscal Year: 2013
    ..Ectopic expression of either Hand1 or Hand2 within the limb results in preaxial polydactyly, a typical AP patterning defect...
  8. Complex Mechanisms in Bardet-Biedl Syndrome Retinopathy
    Val C Sheffield; Fiscal Year: 2013
    ..BBS is a pleiotropic disorder with the primary clinical features of pigmentary retinopathy, obesity, polydactyly, learning disabilities, renal abnormalities and hypogenitalism...
  9. Characterization of regulatory elements leading to human limb malformations
    Gill Bejerano; Fiscal Year: 2013
    ..malformations, the observed modular nature of enhancers, and the recent example of a non- syndromic preaxial polydactyly in humans that has been linked to a long distance enhancer of the Sonic Hedgehog (SHH) gene...
  10. GENETIC AND MOLECULAR CONTROLS OF VERTEBRATE LIMB DEVELOPMENT
    Lee A Niswander; Fiscal Year: 2010
    ..In Aim 1 we will explore the genetics of polydactyly (extra digit formation) and syndactyly (digit and soft-tissue fusion and/or digit loss) and determine the ..
  11. The role of mouse ARL13B in cell diversification during spinal cord development
    TAMARA J CASPARY; Fiscal Year: 2010
    ..Obesity, situs inversus, infertility, diabetes, polydactyly, renal dysfunction, learning disabilities, epilepsy, deafness, anosmia and blindness are all seen in patients ..
  12. GENETIC DETERMINANTS IN KIDNEY AND URINARY TRACT DEFECTS
    Feng Chen; Fiscal Year: 2012
    ..Luxate (Lx) and X-linked polydactyly (Xpl) are two classical mouse mutants with concurrent limb defects and a range of anomalies in the urinary ..
  13. Cilia Assembly and Transport in the Vertebrate Retina
    Brian D Perkins; Fiscal Year: 2013
    ..These multisyndromic disorders often present with retinal degeneration, kidney disease, mental retardation, and polydactyly. In the current application, we will utilize loss-of-function strategies in zebrafish to investigate the ..
  14. Clinical, Pathophysiologic and Therapeutic Studies
    David L Rimoin; Fiscal Year: 2011
    ..interest in their underlying pathogenic pathways, the program project team has chosen to study the short-rib polydactyly disorders and asphyxiating thoracic dysplasia, the brachyolmias, and autosomal recessive osteogenesis ..
  15. Cis-regulatory circuitry underlying Hedgehog mediated limb development
    STEVEN ALEXANDER VOKES; Fiscal Year: 2013
    ..Hh) pathway underlie a vast spectrum of human birth defects, including holoprosencephaly, cleft palate, and polydactyly. Hh signaling controls transcription by regulating the activity of Gli transcription factors...
  16. MOUSE MINUTES: A GENETIC STUDY OF RIBOSOMAL PROTEINS
    Thomas Glaser; Fiscal Year: 2007
    ..mouse mutation Bst (belly spot and tail) causes midventral spotting, vertebral anomalies (tail kinks), preaxial polydactyly, a reduction in retinal ganglion cell (RGC) number, optic nerve aplasia, colobomata, and subretinal ..
  17. MODELING DIAMOND-BLACKFAN ANEMIA
    Thomas Glaser; Fiscal Year: 2006
    ..birth defects, including growth retardation, craniofacial malformations, triphalangeal thumbs and preaxial polydactyly. In view of the universal cellular requirement for ribosomes, the tissue specificity of RPS19 phenotypes is ..
  18. MOLECULAR BASIS OF PREAXIAL POLYDACTYLY TYPE 2
    Anne Hing; Fiscal Year: 1999
    DESCRIPTION: The goals of this application are to clone the gene for preaxial polydactyly type 2 (PPD2), and to determine the role of PPD2 in limb development. Patients with PPD have a polydactyly of the thumbs, fingers or toes...
  19. CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONS
    Thaddeus Dryja; Fiscal Year: 2005
    ..44 genes causing nonsyndromic RP, Usher syndrome (RP and deafness), or Bardet-Biedl syndrome (RP, obesity, polydactyly, short stature, et al.) Of these, 21 have been mapped by linkage studies...
  20. GENETIC & ENVIRONMENTAL DETERMINANTS OF CRANIOFACIAL DIS
    Brendan Lee; Fiscal Year: 2005
    ..the case for hydrolethalus and Meckel syndrome, which are characterized by CNS, craniofacial abnormalities, and polydactyly. They have been mapped to human chromosomes 11 and 17, respectively...
  21. Role of Gli-3 in Mouse Development
    PAULETTE ZAKI; Fiscal Year: 2004
    ..in humans results in the disorder Greig cephalopolysyndactyly (GCPS), characterized by post-axial ad pre-axial polydactyly, syndactyly of hands and feet and craniofacial and eye abnormalities...
  22. Genetic Mechanisms of Vertebrate Caudal Limb Field Specification
    JEFFREY INNIS; Fiscal Year: 2007
    ..Public Health: This work will have broad significance to our understanding of embryonic development as well as the basis for very common human birth defects involving caudal structures and limbs. [unreadable] [unreadable] [unreadable]..
  23. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2004
    ..We will inject these modified ES cells into blastocysts to create chimeric mice, obtain germline transmission of the mutant alleles, and characterize the limb phenotypes associated with these mutations. ..
  24. A PROGRAM FOR RAT GENE DISCOVERY AND MAPPING
    Val Sheffield; Fiscal Year: 2001
    ..Progress during the initial phase of this project resulted in unprecedented efficiency in gene discovery. ..
  25. Calorie Restriction Effects on Chromosomal Aberrations
    CHARLEEN MOORE; Fiscal Year: 2003
    ..The results will be essential in identifying potential mechanisms by which CR acts in cancer prevention and delay of the aging process in long-lived species such as the rhesus monkey and humans. ..
  26. Genetic testing/hearing impairment in African Americans
    NATHANIEL ROBIN; Fiscal Year: 2004
    ..Furthermore, these results will determine the role of mutations in GJB2, GJB6, and GJA1 in HI in AA. Together, these results will lead to more efficient genetic testing for HI in this population. ..
  27. Zic3 and the Control of Body Pattern Formation
    STEPHANIE WARE; Fiscal Year: 2005
    ..Through a combination of supervised research, scientific interchange, and selected coursework within this environment, the candidate will obtain the training necessary to transition to an independent investigator. ..
  28. Small Molecule Inhibitors of Cilia
    Wallace Marshall; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  29. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006
    ..abstract_text> ..
  30. IMMUNE PROTECTION AGAINST MNU-INDUCTED DIGITAL DEFECTS
    MARY PRATER; Fiscal Year: 2006
    ..This research under the guidance of Drs. Steven Holladay and Eric Wong at Virginia Tech...
  31. Identification and characterization of the ALS4 gene
    PHILLIP CHANCE; Fiscal Year: 2006
    ..Specific Aim (5) is to develop an animal model of ALS4 by introducing an identified disease-causing mutation into the germline of the mouse by employing either transgenesis or gene targeting. ..
  32. PATHOBIOCHEMISTRY OF PROTEOGLYCANS IN DEVELOPMENT
    Scott Saunders; Fiscal Year: 2009
    ..abstract_text> ..
  33. Molecular Genetics of Glaucoma
    Val C Sheffield; Fiscal Year: 2010
    ..Candidate genes for mutations screening will be identified using a combination of expression, functional and positional information. ..
  34. Molecular basis of Joubert syndrome and related diseases
    Melissa Parisi; Fiscal Year: 2007
    ..abstract_text> ..
  35. Centriole Orientation During Left/Right Symmetry Breaking in the Mouse
    Wallace Marshall; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  36. MOLECULAR BASIS OF HEREDITARY NEURALGIC AMYOTROPHY
    PHILLIP CHANCE; Fiscal Year: 2008
    ..Moreover, characterization of the HNA gene may have broader pathophysiological and therapeutic implications for more common idiopathic forms of brachial neuropathy. [unreadable] [unreadable]..