title: R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy.
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.
authors.forename: Mariella
authors.initials: M
authors.lastname: Valenzise
authors.forename: Teresa
authors.initials: T
authors.lastname: Arrigo
authors.forename: Francesco
authors.initials: F
authors.lastname: De Luca
authors.forename: Agata
authors.initials: A
authors.lastname: Privitera
authors.forename: Alessandro
authors.initials: A
authors.lastname: Frigiola
authors.forename: Adriana
authors.initials: A
authors.lastname: Carando
authors.forename: Emanuela
authors.initials: E
authors.lastname: Garelli
authors.forename: Margherita
authors.initials: M
authors.lastname: Silengo
mesh_terms: D000293:Adolescent; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000150:complications* / Q000235:genetics*; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins