1. R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy
- Author
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Alessandro Frigiola, Emanuela Garelli, Teresa Arrigo, Adriana Carando, Margherita Silengo, Mariella Valenzise, Agata Privitera, and Francesco De Luca
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Ectodermal dysplasia ,Pathology ,ADULT SYNDROME ,Cardiomyopathy ,medicine.disease_cause ,Right ventricular cardiomyopathy ,Internal medicine ,otorhinolaryngologic diseases ,Genetics ,medicine ,In patient ,Gene ,Genetics (clinical) ,p63 ,Mutation ,business.industry ,Arrhythmogenic right ventricular cardiomyopathy ,General Medicine ,medicine.disease ,Arrhythmogenic right ventricular dysplasia ,Endocrinology ,business - 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