- 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...
- 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...
- WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report
University Children s Hospital, Zurich, Switzerland
Hum Reprod 22:224-9. 2007
- Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
B C Ballif
Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA
Clin Genet 74:469-75. 2008
..1q12.2 is a rare, emerging syndrome. These results illustrate that aCGH is particularly suited to identify rare chromosome abnormalities in patients with apparently non-syndromic idiopathic mental retardation and birth defects...
- Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Université Cattolica Sacro Cuore, Roma, Italy
Am J Hum Genet 72:590-7. 2003
..On the basis of genotype-phenotype correlation analysis, dividing the WHS phenotype into two distinct clinical entities, a "classical" and a "mild" form, is recommended for the purpose of proper genetic counseling...
- An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study
Karina A Issekutz
Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
Am J Med Genet A 133:309-17. 2005
- In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, Paris, France
J Med Genet 40:34-6. 2003
..This study strongly suggests that AD WMS and Marfan syndrome are allelic conditions at the fibrillin-1 locus and adds to the remarkable clinical heterogeneity of type I fibrillinopathies...
- SEMA3E mutation in a patient with CHARGE syndrome
S R Lalani
J Med Genet 41:e94. 2004
- 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...
- 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...
- Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
Seema R Lalani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 78:303-14. 2006
..We conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation...
- Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
Comprehensive Cancer Center and Cancer Research Institute, University of California, San Francisco, CA 94115, USA
Science 311:1287-90. 2006
..Our findings highlight the involvement of the MAPK pathway in human development and will provide a molecular diagnosis of CFC syndrome...
- 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...
- Pathogenesis of split-hand/split-foot malformation
Pascal H G Duijf
Department of Human Genetics 417, University Medical Centre Nijmegen, Box 9101, 6500 HB Nijmegen, The Netherlands
Hum Mol Genet 12:R51-60. 2003
..The identification of novel human and mouse mutations for ectrodactyly will enhance our understanding of AER functions and the pathogenesis of ectrodactyly...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review
T H Shaikh
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA
Genet Med 3:6-13. 2001
..2 may predate the divergence of New World monkeys 40 million years ago. Based on the current data, a number of models are proposed to explain the LCR-mediated constitutional rearrangements of 22q11.2...
- Multifunctional role of the Pitx2 homeodomain protein C-terminal tail
B A Amendt
Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242, USA
Mol Cell Biol 19:7001-10. 1999
..These data suggest that the C-terminal tail intrinsically inhibits the Pitx2 protein and that this inhibition can be overcome by interaction with other transcription factors to allow activation during development...
- 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...
- 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...
- 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...
- Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome
K A Przylepa
Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Nat Genet 13:492-4. 1996
..In two patients, neither of these mutations were found suggesting further genetic heterogeneity...
- Kabuki make-up syndrome: a review
Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
Am J Med Genet C Semin Med Genet 117:57-65. 2003
..Although clinical manifestations of KMS are well established, its natural history, useful for genetic counseling, remains to be studied...
- 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
- 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...
- 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...
- 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...
- 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...
- 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
- Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
Institut für Humangenetik der Universität Göttingen, Germany
Nat Genet 18:81-3. 1998
..TBS therefore represents another human developmental disorder caused by mutations in a putative C2H2 zinc-finger transcription factor...
- The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder
Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, via dei Giaicnti 2, Calambrone, Pisa 56018, Italy
Brain Dev 27:365-9. 2005
..To obtain better information on diagnosis and outcome in a clinical setting, we reviewed the available literature on clinical and behavioural phenotype of inv dup(15) syndrome...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, Cleveland, Ohio 44195, USA
J Biol Chem 278:8780-5. 2003
..5, and loss of synergy in transcriptional activation between these two proteins, as well as impairment in the nuclear localization of TBX5. These defects are likely central to the pathogenesis of Holt-Oram syndrome...
- Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development
Service de Genetique Medicale, Hôpital L Archet 2, CHU de Nice, 151, Route de Saint Antoine de Ginestiere, 06202 Nice cedex 03, France
Eur J Med Genet 49:431-8. 2006
..The malsegregation of this CCR had led, in her son, to partial 10p12.3 to 10p14 deletion, a chromosomal region associated with the DiGeorge like phenotype...
- 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...
- Pattern of p63 mutations and their phenotypes--update
Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
Am J Med Genet A 140:1396-406. 2006
..This is illustrated by the different phenotypes that are seen for the five-hotspot mutations that explain almost 90% of all EEC syndrome patients...
- 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
- Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
Nat Genet 36:1159-61. 2004
..These data are the first to relate germline mutations in a spindle checkpoint gene with a human disorder and strongly support a causal link between aneuploidy and cancer development...
- 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
- Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation
H L Park
Howard Hughes Medical Institute and Developmental Genetics Program, Skirball Institute of Biomolecular Medicine, Department of Cell Biology and Physiology and Neuroscience, New York University Medical School, New York, NY 10016, USA
Development 127:1593-605. 2000
..Furthermore, Gli1 and Gli2, but not Gli1 and Gli3, have extensive overlapping functions that are likely downstream of SHH signaling...
- Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
Regional Genetic Service, Central Manchester University Hospital NHS Trust, Manchester, UK
J Med Genet 43:401-5. 2006
..Individuals with CS have an increased risk of malignancy, suggested to be about 17%. Recently, mutations in the HRAS gene on chromosome 11p13.3 have been found to cause CS...
- Further delineation of Kabuki syndrome in 48 well-defined new individuals
Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
Am J Med Genet A 132:265-72. 2005
..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...
- 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...
- 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...
- Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome
, , Paris, France
Am J Med Genet 99:124-7. 2001
- 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)...
- 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...
- 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...
- 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...
- 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...
- 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...
- Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
Am J Hum Genet 80:550-60. 2007
..STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group...
- Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome
John M Graham
Department of Pediatrics, Medical Genetics Birth Defects Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
Am J Med Genet A 133:240-7. 2005
- Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
C Le Caignec
Service de Genetique Medicale, Institut de Biologie, Centre Hospitalier Universitaire, 9, quai Moncousu, 44093 Nantes Cedex, France
J Med Genet 42:121-8. 2005
..However, the causes of defects in many patients with multiple congenital malformations remain unexplained despite thorough clinical examination and laboratory investigations...
- 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
..These issues highlight the need for a diagnostic system that catalogs both genotype and phenotype. Published 2002 Wiley-Liss, Inc...
- Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
Russell J Ferland
Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, NRB 266, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
Nat Genet 36:1008-13. 2004
..Comparative genetic analysis of AHI1 indicates that it has undergone positive evolutionary selection along the human lineage. Therefore, changes in AHI1 may have been important in the evolution of human-specific motor behaviors...
- Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
Département de Génétique et Unité INSERM U 393, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
J Med Genet 43:211-217. 2006
..Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown...
- Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient
Debora R Bertola
Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of Sao Paulo, Sao Paulo, Brazil
Am J Med Genet A 136:242-5. 2005
..She inherited the PTPN11 mutation from her father and had a de novo NF1 mutation. This is the first report of molecular concurrence of both disorders in the same patient...
- CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years
Lisa C Searle
Medical Student, Dalhousie University, Nova Scotia, Canada
Am J Med Genet A 133:344-9. 2005
..At 33 years of age, he lives independently in a supervised group home, receives regular eye check-ups and is being monitored for severely reduced bone density...
- Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
J Med Genet 40:704-8. 2003
- Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome
Genetics Progra, University of Iowa, Iowa City, IA 52242, USA
Mol Cell Biol 23:1968-82. 2003
..These results suggest that the position 50 residue in the PITX2 homeodomain plays an important role in both DNA binding and dimerization activities...
- Costello syndrome: an overview
Raoul C M Hennekam
Department of Pediatrics, Academic Medical Center, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
Am J Med Genet C Semin Med Genet 117:42-8. 2003
..A review of the findings in the 73 patients that have been described in sufficient detail is provided...
- Congenital heart defects in Kabuki syndrome
M C Digilio
Departments of Medical Genetics and Pediatric Cardiology, , Rome, Italy
Am J Med Genet 100:269-74. 2001
..The high prevalence of CHD prompts accurate re-examination of patients evaluated by pediatric cardiologists in order to identify mild and still unrecognized cases of KS...
- Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features
Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan
Am J Hum Genet 69:1178-85. 2001
- 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...
- Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype
V S Vervoort
Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
J Med Genet 39:893-9. 2002
- Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome
Department of Pediatric Oncology Hematology, Charite, Humboldt University, Berlin, Germany
Eur J Hum Genet 9:599-605. 2001
- 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...
- 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...
- Congenital nasal pyriform aperture stenosis: diagnosis and management of 20 cases
T van den Abbeele
Department of Pediatric Otorhinolaryngology, , Paris, France
Ann Otol Rhinol Laryngol 110:70-5. 2001
..The number of cases treated recently in our department suggests that this newly recognized entity is more common than expected...
- 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...
- Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
E V Semina
f1partment of Pediatrics, University of Iowa, Iowa City 52242, USA
Nat Genet 14:392-9. 1996
..RIEG characterization provides opportunities for understanding ocular, dental and umbilical development and the pleiotropic interactions of pituitary and limb morphogenesis...
- 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...
- 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...
- 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...
- 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...
- 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
- 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
- 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...
- 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...
- 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...
- 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...
- 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...
- 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)...
- Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions
J Med Genet 40:285-9. 2003
- "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."..