Cited by 312dental development and anomaliesGenetic and rare skin diseases.Hair Growth and Disorders

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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

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Cluzeau, Céline, Hadj-Rabia, Smail, Jambou, Marguerite, Mansour, Sourour, Guigue, Philippe, Masmoudi, Sahben, Bal, Elodie, Chassaing, Nicolas, Vincent, Marie-Claire, Viot, Géraldine, Clauss, François, Manière, Marie-Cécile, Toupenay, Steve, Le Merrer, Martine, Lyonnet, Stanislas, Cormier-Daire, Valérie, Amiel, Jeanne, Faivre, Laurence, de Prost, Yves, Munnich, Arnold, Bonnefont, Jean-Paul, Bodemer, Christine, Smahi, Asma·2011·Human Mutation

DOI 10.1002/humu.21384

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Abstract

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.

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Authors: Cluzeau, C., Hadj-Rabia, S., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S., Bal, E., Chassaing, N., Vincent, M.-C., Viot, G., Clauss, F., Manière, M.-C., Toupenay, S., Le Merrer, M., Lyonnet, S., Cormier-Daire, V., Amiel, J., Faivre, L., de Prost, Y., Munnich, A., Bonnefont, J.-P., Bodemer, C., & Smahi, A.
Affiliations: Hôpital Necker-Enfants Malades (FR)
Inserm (FR)
Hôpital Civil, Strasbourg (FR)
Hôpital Cochin (FR)
Hôpitaux Universitaires de Strasbourg (FR)
Hôtel-Dieu de Paris (FR)
CHU Dijon Bourgogne (FR)
Corresponding author: Smahi, Asma
ORCID: Hadj-Rabia, Smail
Mansour, Sourour
Chassaing, Nicolas
Clauss, François
Toupenay, Steve
Lyonnet, Stanislas
Amiel, Jeanne
Faivre, Laurence
Bonnefont, Jean-Paul
Bodemer, Christine
Smahi, Asma
Venue: Human Mutation
Publisher: Wiley
Published: 2010-12-09
Volume: 32
Issue: 1
Pages: 70-72
ISSN: 1059-7794 (ISSN-L)
DOI: 10.1002/humu.21384
OpenAlex: W2091764031
Cited by: 311
References: 29
Citations by year: 2026: 8 · 2025: 16 · 2024: 18 · 2023: 22 · 2022: 22 · 2021: 24 · 2020: 25 · 2019: 17 · 2018: 23 · 2017: 15 · 2016: 20 · 2015: 22 · 2014: 28 · 2013: 26 · 2012: 14
FWCI: 6.64
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 1727 d)
Locations: Human Mutation (publishedVersion)
PubMed (publishedVersion)
HAL (submittedVersion, other-oa)
Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion)
Funders: Agence Nationale de la Recherche
Topics: Health Sciences › Dentistry › General Dentistry › dental development and anomalies
Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
Health Sciences › Medicine › Dermatology › Hair Growth and Disorders
Keywords: hypohidrotic ectodermal dysplasia, EDAR, EDARADD, WNT10A, genotype-phenotype correlation, novel mutations, sweat gland development, dental phenotype
MeSH terms: Adolescent, Adult, Child, Child, Preschool, Ectodermal Dysplasia, Female, Humans, Male, Mutation, Phenotype, Wnt Proteins, Ectodysplasins, Edar Receptor, Edar-Associated Death Domain Protein, Young Adult

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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

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