R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy

Eur J Med Genet. 2008 Sep-Oct;51(5):497-500. doi: 10.1016/j.ejmg.2008.05.005. Epub 2008 May 28.


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.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Arrhythmogenic Right Ventricular Dysplasia / complications*
  • Arrhythmogenic Right Ventricular Dysplasia / genetics*
  • DNA Mutational Analysis
  • Ectodermal Dysplasia / complications*
  • Ectodermal Dysplasia / genetics*
  • Genes, Dominant
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Trans-Activators / genetics*
  • Transcription Factors
  • Tumor Suppressor Proteins / genetics*


  • TP63 protein, human
  • Trans-Activators
  • Transcription Factors
  • Tumor Suppressor Proteins