R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy.
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.
Valenzise
Mariella
M
Arrigo
Teresa
T
De Luca
Francesco
F
Privitera
Agata
A
Frigiola
Alessandro
A
Carando
Adriana
A
Garelli
Emanuela
E
Silengo
Margherita
M
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*
C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins