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

Mariella Valenzise; Teresa Arrigo; Francesco De Luca; Agata Privitera; Alessandro Frigiola; Adriana Carando; Emanuela Garelli; Margherita Silengo

doi:10.1016/j.ejmg.2008.05.005

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

Mariella Valenzise, Teresa Arrigo, Francesco De Luca, Agata Privitera, Alessandro Frigiola, Adriana Carando, Emanuela Garelli, Margherita Silengo

IRCCS Policlinico San Donato

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	497-500
Number of pages	4
Journal	European Journal of Medical Genetics
Volume	51
Issue number	5
DOIs	https://doi.org/10.1016/j.ejmg.2008.05.005
Publication status	Published - Sep 2008

Keywords

Arrhythmogenic right ventricular cardiomyopathy
Ectodermal dysplasia
p63

ASJC Scopus subject areas

Genetics

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10.1016/j.ejmg.2008.05.005

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R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. / Valenzise, Mariella; Arrigo, Teresa; De Luca, Francesco; Privitera, Agata; Frigiola, Alessandro; Carando, Adriana; Garelli, Emanuela; Silengo, Margherita.

In: European Journal of Medical Genetics, Vol. 51, No. 5, 09.2008, p. 497-500.

Research output: Contribution to journal › Article › peer-review

Valenzise, Mariella ; Arrigo, Teresa ; De Luca, Francesco ; Privitera, Agata ; Frigiola, Alessandro ; Carando, Adriana ; Garelli, Emanuela ; Silengo, Margherita. / R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. In: European Journal of Medical Genetics. 2008 ; Vol. 51, No. 5. pp. 497-500.

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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.",

keywords = "Arrhythmogenic right ventricular cardiomyopathy, Ectodermal dysplasia, p63",

author = "Mariella Valenzise and Teresa Arrigo and {De Luca}, Francesco and Agata Privitera and Alessandro Frigiola and Adriana Carando and Emanuela Garelli and Margherita Silengo",

year = "2008",

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AU - Valenzise, Mariella

AU - Arrigo, Teresa

AU - De Luca, Francesco

AU - Privitera, Agata

AU - Frigiola, Alessandro

AU - Carando, Adriana

AU - Garelli, Emanuela

AU - Silengo, Margherita

PY - 2008/9

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N2 - 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.

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

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