- X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
Peter G Barth
Department of Pediatric Neurology, Emma Children s Hospital AMC, University of Amsterdam, Amsterdam, The Netherlands
Am J Med Genet A 126:349-54. 2004
..The apex of the survival curve around puberty and the emergence of adults may reflect a dynamic shift towards increased survival. This trend is exemplified in a large pedigree previously published...
- Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants
Laboratoire de Genetique Moleculaire des Eucaryotes du CNRS, Unite 184 de Biologie Moleculaire et de Genie Genetique de l INSERM, Faculte de Medecine, Strasbourg, France
Development 120:2749-71. 1994
..We discuss several possibilities that may account for the apparent functional redundancy observed amongst retinoic acid receptors during embryogenesis...
- The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
D Y Nishimura
Department of Pediatrics, University of Iowa, Iowa City 52242, USA
Nat Genet 19:140-7. 1998
..Furthermore, FKHL7 was found to harbour mutations in patients diagnosed with Rieger anomaly (RA), Axenfeld anomaly (AA) and iris hypoplasia (IH). This study demonstrates that mutations in FKHL7 cause a spectrum of glaucoma phenotypes...
- Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
Daniel Beltran-Valero de Bernabe
Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Am J Hum Genet 71:1033-43. 2002
..The implication of O-mannosylation in MEB and WWS suggests new lines of study in understanding the molecular basis of neuronal migration...
- The molecular genetics of Marfan syndrome and related microfibrillopathies
P N Robinson
Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charite University Hospital, Humboldt University, D 10098 Berlin, Germany
J Med Genet 37:9-25. 2000
..In this paper we review the molecular physiology and pathophysiology of Marfan syndrome and related microfibrillopathies...
- SEMA3E mutation in a patient with CHARGE syndrome
S R Lalani
J Med Genet 41:e94. 2004
- DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function
Department of Biochemistry and Molecular Biology, UF Shands Cancer Center Program in Cancer Genetics, Epigenetics, and Tumor Virology, University of Florida, PO Box 100245, Gainesville, FL 32610, USA
Hum Mol Genet 17:690-709. 2008
..Therefore, this study provides important new insights into the role of DNMT3B in modulating gene expression and chromatin structure and reveals new connections between DNMT3B and polycomb-mediated repression...
- Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
Melissa A Fath
Department of Pediatrics, Division of Medcal Genetics, University of Iowa, Iowa City, IA 52242, USA
Hum Mol Genet 14:1109-18. 2005
..These observations suggest that the complete absence of MKKS leads to BBS while the MKS phenotype is likely to be due to specific mutations...
- Germline mutations in HRAS proto-oncogene cause Costello syndrome
Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
Nat Genet 37:1038-40. 2005
..Our observations suggest that germline mutations in HRAS perturb human development and increase susceptibility to tumors...
- Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
C T Basson
Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Nat Genet 15:30-5. 1997
..We conclude that TBX5 is critical for limb and heart development and suggest that haploinsufficiency of TBX5 causes Holt-Oram syndrome...
- Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome
W S Layman
Department of Human Genetics, University of Michigan Medical Center, 3520A Medical Science Research Building I, Ann Arbor, MI 48109 5652, USA
Hum Mol Genet 18:1909-23. 2009
..These studies provide evidence that mammalian olfactory dysfunction due to Chd7 haploinsufficiency is linked to primary defects in olfactory neural stem cell proliferation and may influence olfactory bulb development...
- Joubert syndrome (and related disorders) (OMIM 213300)
Melissa A Parisi
Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195 6320, USA
Eur J Hum Genet 15:511-21. 2007
..Recent identification of the NPHP1, AHI1, and CEP290 genes has started to reveal the molecular basis of JS, which may implicate the primary cilium in these disorders. Additional genes remain to be identified...
- Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells
Tumor Virology Laboratory, Johns Hopkins Singapore, Level 5 Clinical Research Center MD11, NUS, 10 Medical Drive, Singapore 117597
Hum Mol Genet 11:2091-102. 2002
..Lastly, no consistent changes in the protein levels of the DNA methyltransferases were noted when normal and ICF cell lines were compared...
- CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome
M C J Jongmans
Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
Clin Genet 75:65-71. 2009
..If such features are present, particularly deafness, dysmorphic ears and/or hypoplasia or aplasia of the semicircular canals, CHD7 sequencing is recommended...
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente
Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
Nat Genet 42:619-25. 2010
..These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders...
- Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome
Loic de Pontual
Unité INSERM U 781, Universite Paris Descartes, Faculte de Medecine, INSERM
Hum Mutat 30:669-76. 2009
..In summary, we further delineate an underdiagnosed mental retardation syndrome, highlighting TCF4 function during development and facilitating diagnosis within the first year of life...
- First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation
Institute of Human Genetics, Friedrich Alexander University of Erlangen Nurnberg, Erlangen, Germany
Am J Med Genet 99:338-42. 2001
..Thus, manifestations attributable to this deletion are reduced weight for height, minor facial anomalies, ADHD and some learning and fine motor deficiencies, while seizures may be associated with deletions of LETM1...
- Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome
J Med Genet 40:601-5. 2003
- Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging
Department of Gynecology and Obstetrics, University Hospital, Universitätsstrasse 21 23, D 91054 Erlangen, Germany
Hum Reprod 21:792-7. 2006
..This retrospective study examined the issue of associated malformations, subtyping, and the frequency distribution of subtypes in MRKH syndrome...
- Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
Q Y Li
Department of Genetics, University of Nottingham, Queen s Medical Centre, UK
Nat Genet 15:21-9. 1997
..Tissue in situ hybridization studies on human embryos from days 26 to 52 of gestation reveal expression of TBX5 in heart and limb, consistent with a role in human embryonic development...
- Evidence against a major role of PEG1/MEST in Silver-Russell syndrome
A M Riesewijk
Department of Human Genetics, University Hospital Nijmegen, The Netherlands
Eur J Hum Genet 6:114-20. 1998
..These findings strongly argue against a role of PEG1/MEST in the majority of Silver-Russell syndrome cases...
- Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
Invest Ophthalmol Vis Sci 50:2599-606. 2009
..To assess the effects of previously uncharacterized PITX2 missense mutations found in patients with Axenfeld-Rieger syndrome and to determine the functional roles of the C-terminal region of PITX2...
- Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
Simeon A Boyadjiev
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nat Genet 38:1192-7. 2006
..Our observations suggest that disrupted endoplasmic reticulum export of the secretory proteins required for normal morphogenesis accounts for CLSD...
- Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes
Joseph G Gleeson
Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, California 92093 0624, USA
Am J Med Genet A 125:125-34; discussion 117. 2004
..Proper classification of patients with these variants of the MTS will be essential for localization and identification of mutant genes...
- SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature
Department of Pediatrics, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Am J Med Genet 102:1-10. 2001
..Our results suggest that this mutation may be specific for the SMMCI phenotype since it has not been found in the HPE population or in normal controls. Published 2001 Wiley-Liss, Inc...
- TCF4 deletions in Pitt-Hopkins Syndrome
INSERM U841, IMRB, Département de génétique, Equipe 11, Creteil, F 94000, France
Hum Mutat 29:E242-51. 2008
..In this report, we also further specify the phenotypic spectrum of PHS, enlarged to behavior, with aim to increase the rate and specificity of PHS diagnosis...
- Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
Université René Descartes et INSERM U 781, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
Am J Hum Genet 81:170-9. 2007
..These data identify a fourth locus for MKS (MKS4) and the CEP290 gene as responsible for MKS...
- Mortality and incidence in women with 47,XXX and variants
Medical Department M Endocrinology and Diabetes, Aarhus Sygehus, Aarhus University Hospital, Aarhus C, Denmark
Am J Med Genet A 152:367-72. 2010
..Better delineation of the clinical phenotype of 47,XXX is needed; available information does not readily explain the increased mortality...
- Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Ohio, USA
Nat Genet 21:302-4. 1999
..The findings reported here confirm that NOG is essential for joint formation and suggest that NOG requirements during skeletogenesis differ between species and between specific skeletal elements within species...
- Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
Hum Mutat 31:E1319-31. 2010
..These exons encode for a region of unknown function in the extracellular domain of meckelin...
- Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
Casa Sollievo della Sofferenza Hospital, IRCCS, S San Giovanni Rotondo, Italy
Orphanet J Rare Dis 4:25. 2009
..This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood...
- Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
Department of Neurosciences, Laboratory of Neurogenetics, Howard Hughes Medical Institute, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0691, USA
Am J Hum Genet 83:170-9. 2008
..Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs...
- Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins
J Med Genet 43:280-4. 2006
..We identified a monozygotic twin pair with CHARGE syndrome and a de novo balanced chromosome rearrangement t(8;13)(q11.2;q22)...
- CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
M C J Jongmans
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
J Med Genet 43:306-14. 2006
..Specific behavioural problems, including autistic-like behaviour, have been described. The CHD7 gene on chromosome 8q12.1 was recently discovered as a major gene involved in the aetiology of this syndrome...
- Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients
A M Slavotinek
National Human Genome Research Institute, National Institutes of Health, Bldg 49 Room 4B75, 49 Convent Drive, Bethesda, MD 20895, USA
Hum Genet 110:561-7. 2002
..The frequency of detected mutations in MKKS in Group II patients was 24%, i.e., six times higher than the published rate for unselected BBS patients, suggesting that small-scale linkage analyses may be useful in suitable families...
- Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
Dept of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 84:780-91. 2009
..These differences reveal the phenotypic consequences of gene alterations in cis...
- Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome
Juan Jose Gorgojo
Unit of Endocrinology, Fundación Hospital of Alcorcón, Alcorcon, Spain
Fertil Steril 77:185-7. 2002
..To describe a patient with bilateral ovarian agenesis associated with the atypical form of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome...
- Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
Department of Biochemistry, University of Otago, Dunedin, New Zealand
Nat Genet 9:358-64. 1995
..The phenotype resulting from the PAX2 mutation in this family was very similar to abnormalities that have been reported in Krd mutant mice. These data suggest that PAX2 is required for normal kidney and eye development...
- Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome
, , Paris, France
Am J Med Genet 99:124-7. 2001
- VATER non-random association of congenital malformations: study based on data from four malformation registers
Tornblad Institute, University of Lund, Biskopsgatan 7, 223 62 Lund, Sweden
Am J Med Genet 101:26-32. 2001
..In the search for risk factors, a strict definition of the VATER association is needed in order to not dilute the study material with irrelevant cases. The present study provides such strict inclusion criteria...
- Function of Rieger syndrome gene in left-right asymmetry and craniofacial development
M F Lu
Alkek Institute of Biosciences and Technology, Center for Cancer Biology and Nutrition, Texas A and M University System Health Science Center, Houston 77030, USA
Nature 401:276-8. 1999
..These data reveal a critical role for pitx2 in left-right asymmetry but indicate that pitx2 may function at an intermediate step in cardiac morphogenesis and embryonic rotation...
- Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
CNRS UMR 6061, Institut de Génétique et Développement de Rennes, Universite de Rennes 1, IFR140 GFAS, Faculte de Medecine, Rennes, France
Orphanet J Rare Dis 2:13. 2007
..As psychological distress is very important in young women with MRKH, it is essential for the patients and their families to attend counseling before and throughout treatment...
- Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization
The Burnham Institute, La Jolla Cancer Research Center, La Jolla, CA 92037, USA
J Pathol 193:125-33. 2001
..While abnormal metabolism of vitamin B6 explains many of the abnormalities in this mouse model of infantile hypophosphatasia, it is not the basis of the abnormal mineralization that characterizes this disease...
- Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Am J Hum Genet 79:370-7. 2006
..These results establish that haploinsufficiency of EHMT1 is causative for 9q subtelomeric deletion syndrome...
- Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity
P Cerruti Mainardi
Pediatric Department and Genetics Unit, S Andrea Hospital, Vercelli, Italy
J Med Genet 41:e16. 2004
- Congenital aplasia of the semicircular canals
Departments of Otolaryngology Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan 48109, USA
Otol Neurotol 24:437-46. 2003
- Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
Reha M Toydemir
Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
Nat Genet 38:561-5. 2006
..Elucidation of the genetic basis of these syndromes redefines congenital contractures as unique defects of the sarcomere and provides insights about what has heretofore been a poorly understood group of disorders...
- Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1
M K Wirtz
Department of Ophthalmology, Casey Eye Institute, Oregon Health Sciences University, Portland 97201 4197, USA
Am J Med Genet 65:68-75. 1996
..1, are candidate genes for Weill-Marchesani syndrome. Immunohistochemistry staining of skin sections from family 1 showed an apparent decrease in fibrillin staining compared to control individuals...
- CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
Am J Hum Genet 81:104-13. 2007
..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...
- Kabuki syndrome: a review study of three hundred patients
Marja W Wessels
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
Clin Dysmorphol 11:95-102. 2002
..Postnatal growth retardation, skeletal and visceral anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients...
- A gene for Meckel syndrome maps to chromosome 11q13
Unité de Recherches sur les Handicaps Génétiques de lEnfant, INSERMU 393, France
Am J Hum Genet 63:1095-101. 1998
..Our observation gives support to the clinical and genetic heterogeneity of MKS...
- Genotype-phenotype correlation in patients suspected of having Sotos syndrome
Lonneke de Boer
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
Horm Res 62:197-207. 2004
..We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration...
- Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
F R Goodman
Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
Am J Hum Genet 67:197-202. 2000
..Mutations in HOXA13 can therefore cause more-severe limb abnormalities than previously suspected and may act by more than one mechanism...
- Clinical and mutational spectrum of Mowat-Wilson syndrome
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
Eur J Med Genet 48:97-111. 2005
..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor...
- Oesophageal atresia
Department of Paediatric Surgery, Institute of Child Health, University College, London, UK
Orphanet J Rare Dis 2:24. 2007
..Infants weighing over 1500 g and having no major cardiac problem should have a near 100% survival, while the presence of one of the risk factors reduces survival to 80% and further to 30-50% in the presence of both risk factors...
- Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions
J Med Genet 40:285-9. 2003
- Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
Research Institute, I R C C S, Stella Maris Foundation, University of Pisa, Italy
Brain 129:1892-906. 2006
..Statistical analysis considering all 42 mutations described so far identifies a hotspot region for PNH in the actin-binding domain (P < 0.05)...
- Complex malformations of the female genital tract. New types and revision of classification
Service of Obstetrics and Gynecology, San Juan University Hospital and Department Division of Gynecology, School of Medicine, Miguel Hernandez University, Campus of San Juan, Alicante, Spain
Hum Reprod 19:2377-84. 2004
- Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break
Division de Genetica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico
Am J Med Genet 85:385-8. 1999
..The 13q telomere found in the del(13q) was probably captured from the homologous chromosome...
- "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene
Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Erlangen, Germany
Am J Med Genet 108:177-81. 2002
..We demonstrate that there is a specific clinical entity with a recognizable facial gestalt, mental retardation and variable MCAs which we propose be called the "Mowat-Wilson syndrome."..
- Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system
L de Boer
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
Eur J Endocrinol 151:333-41. 2004
- Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome
E T Cunningham
Wilmer Ophthalmological Institute, The Johns Hopkins University Medical Institutions, Baltimore, MD, USA
Arch Ophthalmol 116:78-82. 1998
..To describe the clinical and ocular histopathological findings in multiple members of a family with congenital Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss...
- CFC index for the diagnosis of cardiofaciocutaneous syndrome
M I Kavamura
Centro de Genética Médica da Universidade Federal de São Paulo Escola Paulista de Medicina, Brazil
Am J Med Genet 112:12-6. 2002
..We propose the use of the CFC index for the confirmation of CFC diagnosis and to differentiate CFC from other phenotypically similar genetic conditions, while molecular studies are still in progress...
- Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment
Britt Marie Anderlid
Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, Stockholm, Sweden
Eur J Hum Genet 11:89-92. 2003
..The forkhead transcription factor gene FOXC1, involved in a spectrum of anterior eye chamber disorders, is deleted in this patient, together with several characterised and putative genes with yet unknown function...
- Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
Heidi A Heilstedt
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 72:1200-12. 2003
..Our clinical findings allow for the more accurate recognition of the syndrome and for proper medical evaluation...
- Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort
Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Southampton, UK
Eur J Hum Genet 13:716-20. 2005
..Using BAC fluorescence in situ hybridisation, there was no evidence of the duplication of 8p recently reported by Milunsky and Huang. We conclude that the cause of KS has yet to be established...
- Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes
L A Katz
Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
Am J Med Genet A 130:277-83. 2004
..We did not find any mutations in exon 5 of FLNA in 179 omphalocele cases studied...
- Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association
Elisabeth M de Jong
Department of Pediatric Surgery, Erasmus MC Sophia Children s Hospital, Rotterdam, The Netherlands
Birth Defects Res A Clin Mol Teratol 82:92-7. 2008
..The full phenotype of patients with EA/TEF and other anomalies of the VACTERL spectrum of defects association is not well described in the literature...
- CHARGE syndrome: report of 47 cases and review
A L Tellier
Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant, INSERM U 393, Hopital Necker Enfants Malades, Paris, France
Am J Med Genet 76:402-9. 1998
- HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
Karen W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
Am J Med Genet A 140:1-7. 2006
..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete...
- Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region
Elke M Botzenhart
Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
Hum Mutat 28:204-5. 2007
..The latter is associated with anal, ear, hand, and renal manifestations, indicating that the glutamine-rich domain is not required for typical TBS...
- Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues
Megan E Tucker
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46260, USA
Am J Med Genet A 143:505-17. 2007
..We also discuss a variety of counseling issues including long-term survival, reproductive capacity of individuals with mosaic trisomy 18, and recurrence risks...
- A case of congenital high airway obstruction syndrome managed by ex utero intrapartum treatment: case report and review of the literature
Department of Obstetrics and Gynecology, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan
Am J Perinatol 24:197-201. 2007
..However, management of the airway, particularly with regard to long-term reconstruction in children with CHAOS, remains challenging...
- 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
..The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly...
- The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches
CNRS UMR 6061, Genetique et Developpement, Universite de Rennes 1, Groupe IPD, IFR140 GFAS, Faculte de Medecine, Rennes, France
J Negat Results Biomed 5:1. 2006
..Expression and/or function defects of one or several HOX genes may account for this syndrome...
- Joubert syndrome with atrial septal defect and persistent left superior vena cava
Department of Radiology, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey
Diagn Interv Radiol 13:94-6. 2007
..We present a 7-month-old girl with Joubert syndrome in whom MRI showed the typical features of this condition. She also had polydactyly, atrial septal defect, and persistent left superior vena cava...
- Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome
In Suk Kim
Department of Laboratory Medicine, Gyeong Sang National University Hospital, Jinju, South Korea
J Hum Genet 52:698-701. 2007
..This study confirms that familial CS patients in Korea have the same genetic background as other ethnicities and reaffirms the phenotype variability among CS patients with the same mutation...
- Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes
Jennifer J Johnston
J Med Genet 44:e59. 2007
..We suggest that high-density CGH array analysis should replace FISH analysis for assessment of deletions and duplications in patients with contiguous gene syndromes caused by variable deletions...
- Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion
Piranit N Kantaputra
Faculty of Dentistry, Department of Pediatric Dentistry, Chiang Mai University, Chiang Mai, Bangkok, Thailand
Am J Med Genet A 140:2598-602. 2006
..Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation...
- Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
Hum Mutat 27:211-2. 2006
..It therefore seems that there is a different contribution of SALL1 gene function to mouse and human embryonic development...
- Follow-up and risk of tumors in overgrowth syndromes
Ricardo Gracia Bouthelier
Department of Pediatric Endocrinology, Hospital Universitario La Paz, Autonoma University, Madrid, Spain
J Pediatr Endocrinol Metab 18:1227-35. 2005
..In this article we briefly review some aspects of the current knowledge of OGS and tumors, emphasizing the follow-up of these disorders...
- Truncus arteriosus associated with interrupted aortic arch in 50 neonates: a Congenital Heart Surgeons Society study
Igor E Konstantinov
The Hospital for Sick Children, Toronto, Ontario, Canada
Ann Thorac Surg 81:214-22. 2006
..Patients with both interrupted aortic arch (IAA) and truncus arteriosus (TA) have worse outcomes than those with either lesion in isolation. We determined outcomes and associated factors in this rare group...
- A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome
Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, 75390 9148, USA
Proc Natl Acad Sci U S A 102:18034-9. 2005
..These findings reveal key roles for TAZ and YAP in the control of TBX5-dependent transcription and suggest the involvement of these coactivators in cardiac and limb development...
- Clinical characteristics and natural history of Freeman-Sheldon syndrome
David A Stevenson
Pediatrics, University of Utah, Salt Lake City, Utah, USA
Pediatrics 117:754-62. 2006
..The objective of this study was to analyze the presentation, natural history, and outcome of a cohort of individuals ascertained using strict diagnostic criteria for FSS...
- Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome
Department of Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China
Clin Chem 52:46-52. 2006
..The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in HLXB9...
- BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome
Kendra W Kimberley
Department of Pediatrics Division of Genetics, University of Nevada School of Medicine, Las Vegas, NV, USA
BMC Med Genet 7:46. 2006
..Recent studies have focused on possible duplications in the 8p22-8p23.1 region but no consensus has been reached...
- The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients
G Van Buggenhout
Center for Human Genetics, University of Leuven, Heresraat 49, 3000 Leuven, Belgium
Eur J Med Genet 48:276-89. 2005
..A potential commonly deleted interval of the three patients with behavioral problems, excluding the deletion in the patient without behavioral problems, is at most 0.5 Mb in size harboring only two genes...
- New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands
Ralph J Florijn
Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
Eur J Hum Genet 14:986-90. 2006
..We report here the first splice site sequence alteration mutation and three protein truncating mutations. Our results suggest that X-linked cataract and NHS are allelic disorders...
- 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...
- Early diagnosis of the papillorenal syndrome by optic disc morphology
Arif O Khan
Department of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
J Neuroophthalmol 25:209-11. 2005
..We report an infant whose characteristic fundus findings led to the early diagnosis of the papillorenal syndrome before the potential development of renal dysfunction...
- Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes
Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
Am J Med Genet A 140:1880-6. 2006
- Omphalocele, bladder exstrophy, imperforate anus, spine defects complex, and bilateral cleft lip and palate in one product of a triplet pregnancy obtained by in vitro fertilization: a case report
Department of Human Genetics, Instituto Nacional de Pediatria, Mexico
Am J Med Genet A 143:1933-5. 2007
- A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis
School of Medicine, University of Leeds, Leeds, UK
Am J Med Genet A 146:1713-7. 2008
- C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome
Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada
Pediatr Radiol 38:766-71. 2008
..Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability...
- Diagnosis of Pentalogy of Cantrell by three-dimensional ultrasound in third trimester of pregnancy. A case report
Edward Araujo Júnior
Training Center of Ultrasonography of São Paulo CETRUS, Sao Paulo, Brazil
Fetal Diagn Ther 21:544-7. 2006
- Genotype-phenotype correlations in MYCN-related Feingold syndrome
Carlo L M Marcelis
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mutat 29:1125-32. 2008
..We suggest that the presence of brachymesophalangy and toe syndactyly in combination with microcephaly is enough to justify MYCN analysis...
- A case of cerebello-oculo-renal syndrome with situs inversus totalis: a new phenotype
Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey
J Child Neurol 22:204-7. 2007
..Imaging studies showed molar tooth sign, which was compatible with cerebello-oculo-renal syndromes and situs inversus totalis...
- Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress
Service de Genetique Medicale, CHU Hopital Sud, Rennes Cedex 2, France
Eur J Med Genet 52:41-6. 2009
..1 is implicated in lens cell proliferation and differentiation for congenital cataract; GPC5 in 13q32 is mainly expressed in the mesenchyme of the developing limb bud for upper limb anomalies...
- Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome
Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
Am J Med Genet A 123:204-7. 2003
..010), and cardiac anomalies (39% in AR, 13% in AD, Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in individual cases. These results support the clinical homogeneity but the genetic heterogeneity of WMS...
- Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development
Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, CT 06032, USA
Proc Natl Acad Sci U S A 106:181-6. 2009
- Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
National Institute of Health and Welfare, Public Health Genomics Unit and FIMM, Institute for Molecular Medicine Finland, Helsinki 00290, Finland
Hum Mutat 30:E813-30. 2009
..Based on this study, mutations play a role in the clinical phenotype, given that the same allelic combination of mutations has never been reported in two clinically distinct syndromes...