1. R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy.
- Author
-
Valenzise M, Arrigo T, De Luca F, Privitera A, Frigiola A, Carando A, Garelli E, and Silengo M
- Subjects
- Adolescent, DNA Mutational Analysis, Genes, Dominant, Humans, Male, Phenotype, Transcription Factors, Arrhythmogenic Right Ventricular Dysplasia complications, Arrhythmogenic Right Ventricular Dysplasia genetics, Ectodermal Dysplasia complications, Ectodermal Dysplasia genetics, Mutation, Trans-Activators genetics, Tumor Suppressor Proteins genetics
- Abstract
Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: Ectrodactyly-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC syndrome, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (ADULT syndrome, MIM 103285), Rapp-Hodgkin (RHS syndrome, MIM 129400) and Limb-Mammary (LMS syndrome, MIM 603543) [2]. In all those conditions congenital heart defects have been only occasionally found and to date, arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) has never been observed in patients affected by p63-related ectodermal dysplasia [9]. Here we describe for the first time this association.
- Published
- 2008
- Full Text
- View/download PDF