How to cite this article: Rinne T, Hamel B, van Bokhoven H, Brunner HG. 2006. Pattern of p63 mutations and their phenotypes—update. Am J Med Genet Part A 140A:1396–1406.
Pattern of p63 mutations and their phenotypes—update†
Version of Record online: 11 MAY 2006
Copyright © 2006 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 140A, Issue 13, pages 1396–1406, 1 July 2006
How to Cite
Rinne, T., Hamel, B., Bokhoven, H. v. and Brunner, H. G. (2006), Pattern of p63 mutations and their phenotypes—update. Am. J. Med. Genet., 140A: 1396–1406. doi: 10.1002/ajmg.a.31271
- Issue online: 20 JUN 2006
- Version of Record online: 11 MAY 2006
- Manuscript Accepted: 20 MAR 2006
- Manuscript Received: 6 JUL 2005
- ZonMW. Grant Number: 901-02-232
- European Union Sixth Framework programme EpiStem project. Grant Number: LSHB-CT-2005-019067
- ectodermal dysplasia;
- split hand;
- split foot
Heterozygous mutations in the transcription factor gene p63 cause at least six different syndromes with various combinations of ectodermal dysplasia, orofacial clefting and limb malformations. Here we will present an update of mutations in the p63 gene together with a comprehensive overview of the associated clinical features in 227 patients. These data confirm the previously recognized genotype–phenotype associations. Moreover, we report that there is a large degree of clinical variability in each of the p63-associated disorders. This is illustrated by the different phenotypes that are seen for the five-hotspot mutations that explain almost 90% of all EEC syndrome patients. © 2006 Wiley-Liss, Inc.