Polydactyly: How many disorders and how many genes?
Open Access
- 30 September 2002
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 112 (3) , 279-283
- https://doi.org/10.1002/ajmg.10779
Abstract
Disorders that include polydactyly as a manifestation are diverse and numerous. Cataloging these disorders by phenotype and genotype demonstrates numerous overlapping phenotypes, genetic heterogeneity of phenotypes, and distinct phenotypes generated from mutations in single genes. To assess these issues, a list of disorders with polydactyly has been compiled from several sources. Among 119 disorders, 39 disorders are associated with mutations in genes, and among these, genotypic and phenotypic overlap is demonstrated. These issues highlight the need for a diagnostic system that catalogs both genotype and phenotype. Published 2002 Wiley-Liss, Inc.Keywords
This publication has 15 references indexed in Scilit:
- Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive DisorderScience, 2001
- The Land Between Mendelian and Multifactorial InheritanceScience, 2001
- The molecular genetics of Bardet–Biedl syndromeCurrent Opinion in Genetics & Development, 2001
- Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosisNature Genetics, 2000
- 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 MutationsAmerican Journal of Human Genetics, 1999
- Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz SyndromeAmerican Journal of Human Genetics, 1998
- Mutation in GLI3 in postaxial polydactyly type ANature Genetics, 1997
- GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndromeNature Genetics, 1997
- Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromesEuropean Journal of Pediatrics, 1996
- GLI3 zinc-finger gene interrupted by translocations in Greig syndrome familiesNature, 1991