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Pattern of p63 mutations and their phenotypes—update
Author(s) -
Rinne Tuula,
Hamel Ben,
Bokhoven Hans van,
Brunner Han G.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31271
Subject(s) - phenotype , genetics , biology , gene , genotype , ectodermal dysplasia , genotype phenotype distinction , bioinformatics
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.