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 | |
| Publication status | Published - Sep 2008 |
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Keywords
- Arrhythmogenic right ventricular cardiomyopathy
- Ectodermal dysplasia
- p63
ASJC Scopus subject areas
- Genetics
Cite this
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
}
TY - JOUR
T1 - R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy
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
Y1 - 2008/9
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.
KW - Arrhythmogenic right ventricular cardiomyopathy
KW - Ectodermal dysplasia
KW - p63
UR - http://www.scopus.com/inward/record.url?scp=50549090225&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=50549090225&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2008.05.005
DO - 10.1016/j.ejmg.2008.05.005
M3 - Article
C2 - 18603493
AN - SCOPUS:50549090225
VL - 51
SP - 497
EP - 500
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 5
ER -