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Only four genes ( EDA1, EDAR, EDARADD, and WNT10A ) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
Author(s) -
Cluzeau Céline,
HadjRabia Smail,
Jambou Marguerite,
Mansour Sourour,
Guigue Philippe,
Masmoudi Sahben,
Bal Elodie,
Chassaing Nicolas,
Vincent MarieClaire,
Viot Géraldine,
Clauss François,
Manière MarieCécile,
Toupenay Steve,
Le Merrer Martine,
Lyonnet Stanislas,
CormierDaire Valérie,
Amiel Jeanne,
Faivre Laurence,
de Prost Yves,
Munnich Arnold,
Bonnefont JeanPaul,
Bodemer Christine,
Smahi Asma
Publication year - 2011
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21384
Subject(s) - hypohidrotic ectodermal dysplasia , ectodermal dysplasia , genetics , biology , genodermatosis , locus (genetics) , gene
Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis characterized by abnormal development of sweat glands, teeth, and hair. Three disease‐causing genes have been hitherto identified, namely, (1) EDA1 accounting for X‐linked forms, (2) EDAR , and (3) EDARADD , causing both autosomal dominant and recessive forms. Recently, WNT10A gene was identified as responsible for various autosomal recessive forms of ectodermal dysplasias, including onycho‐odonto‐dermal dysplasia (OODD) and Schöpf‐Schulz‐Passarge syndrome. We systematically studied EDA1 , EDAR , EDARADD, and WNT10A genes in a large cohort of 65 unrelated patients, of which 61 presented with HED/EDA. A total of 50 mutations (including 32 novel mutations) accounted for 60/65 cases in our series. These four genes accounted for 92% (56/61 patients) of HED/EDA cases: (1) the EDA1 gene was the most common disease‐causing gene (58% of cases), (2) WNT10A and EDAR were each responsible for 16% of cases. Moreover, a novel disease locus for dominant HED/EDA mapped to chromosome 14q12–q13.1. Although no clinical differences between patients carrying EDA1 , EDAR, or EDARADD mutations could be identified, patients harboring WNT10A mutations displayed distinctive clinical features (marked dental phenotype, no facial dysmorphism), helping to decide which gene should be first investigated in HED/EDA. Hum Mutat 31:1–8, 2010. © 2010 Wiley‐Liss, Inc.