Genetics of congenital anomalies of the hand
Open Access
- 18 November 2022
- journal article
- editorial
- Published by Baishideng Publishing Group Inc. in World Journal of Orthopedics
- Vol. 13 (11), 949-954
- https://doi.org/10.5312/wjo.v13.i11.949
Abstract
Congenital anomalies of the hand are malformations occurring during the development of the human limb, and present as isolated disorders or as a part of a syndrome. During the last years, molecular analysis techniques have offered increasing knowledge about the molecular basis of hand malformations. Disturbances in the signaling pathways during the development of the upper limb result in malformations of the upper extremity. At present, several genes have been identified as responsible for hand anomalies and other have been recognized as suspect genes related to them. Different and new high throughput methods have been introduced for the identification of the gene mutations. In the current editorial, we summarize concisely the current molecular status of isolated hand genetic disorders and the recent progress in molecular genetics, including the genes related to the disorder. This progress improves the knowledge of these disorders and has implications on genetic counselling and prenatal diagnosis.Keywords
This publication has 42 references indexed in Scilit:
- Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactylyEuropean Journal of Human Genetics, 2012
- Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genesHuman Genetics, 2011
- A novel microdeletion at chromosome 2q31.1‐31.2 in a three‐generation family presenting duplication of great toes with clinodactylyClinical Genetics, 2009
- A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndromeJournal of Medical Genetics, 2008
- The developing limb and the control of the number of digitsClinical Genetics, 2005
- Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36American Journal of Human Genetics, 2000
- Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndromeNature Genetics, 1998
- Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyNature Genetics, 1997
- The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7qNature Genetics, 1994
- Hereditary index finger polydactyly: phenotypic, radiological, dermatoglyphic, and genetic findings in a large family.Journal of Medical Genetics, 1976