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.
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Authors | Mariella Valenzise, Teresa Arrigo, Francesco De Luca, Agata Privitera, Alessandro Frigiola, Adriana Carando, Emanuela Garelli, Margherita Silengo |
Journal | European journal of medical genetics
(Eur J Med Genet)
Vol. 51
Issue 5
Pg. 497-500
( 2008)
ISSN: 1769-7212 [Print] Netherlands |
PMID | 18603493
(Publication Type: Case Reports, Letter)
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Chemical References |
- TP63 protein, human
- Trans-Activators
- Transcription Factors
- Tumor Suppressor Proteins
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Topics |
- Adolescent
- Arrhythmogenic Right Ventricular Dysplasia
(complications, genetics)
- DNA Mutational Analysis
- Ectodermal Dysplasia
(complications, genetics)
- Genes, Dominant
- Humans
- Male
- Mutation
- Phenotype
- Trans-Activators
(genetics)
- Transcription Factors
- Tumor Suppressor Proteins
(genetics)
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