Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

Bal, E.; Baala, L.; Cluzeau, C.; El Kerch, F.; Ouldim, K.; Hadj-Rabia, S.; Bodemer, C.; Munnich, A.; Courtois, G.; Sefiani, A.; Smahi, A.

doi:10.1002/humu.20500

Cited by 100dental development and anomaliesGenetic and rare skin diseases.Hair Growth and Disorders

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

Bal, E., Baala, L., Cluzeau, C., El Kerch, F., Ouldim, K., Hadj-Rabia, S., Bodemer, C., Munnich, A. +3 more·2007·Human Mutation

DOI 10.1002/humu.20500

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Abstract

Anhidrotic ectodermal dysplasia (EDA) is a disorder of ectodermal differentiation characterized by sparse hair, abnormal or missing teeth, and inability to sweat. X-linked EDA is the most common form, caused by mutations in the EDA gene, which encodes ectodysplasin, a member of the tumor necrosis factor (TNF) family. Autosomal dominant and recessive forms of EDA have been also described and are accounted for by two genes. Mutations in EDAR, encoding a TNF receptor (EDAR) cause both dominant and recessive forms. In addition, mutations in a recently identified gene, EDARADD, encoding EDAR-associated death domain (EDARADD) have been shown to cause autosomal recessive EDA. Here, we report a large Moroccan family with an autosomal dominant EDA. We mapped the disease gene to chromosome 1q42.2-q43, and identified a novel missense mutation in the EDARADD gene (c.335T>G, p.Leu112Arg). Thus, the EDARADD gene accounts for both recessive and dominant EDA. EDAR is activated by its ligand, ectodysplasin, and uses EDARADD to build an intracellular complex and activate nuclear factor kappa B (NF-kB). We compared the functional consequences of the dominant (p.Leu112Arg) and recessive mutation (p.Glu142Lys), which both occurred in the death domain (DD) of EDARADD. We demonstrated that the p.Leu112Arg mutation completely abrogated NF-kB activation, whereas the p.Glu142Lys retained the ability to significantly activate the NF-kB pathway. The p.Leu112Arg mutation is probably a dominant negative form as its cotransfection impaired the wild-type EDARADD's ability to activate NF-kB. Our results confirm that NF-kB activation is impaired in EDA and support the role of EDARADD DD as a downstream effector of EDAR signaling.

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The EDARADD gene (1q42.2-q43), which determines the adaptor for the EDAR receptor, may also cause hypohidrotic ectodermal dysplasia of autosomal recessive and autosomal dominant inheritance patterns.
“The EDARADD gene (1q42.2-q43)which determines the adaptor for the EDAR receptor may also cause hypohidrotic ED of the AR [Headon et al., 2001] and AD [Bal et al., 2007] inheritance patterns.”
From Ectodermal dysplasias: Clinical and molecular review (2009) · cites this paper as Bal et al., 2007

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Additional file 1 of Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
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Additional file 2 of Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
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Mutations inEDARADDaccount for a small proportion of hypohidrotic ectodermal dysplasia cases
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A Missense Mutation in the Death Domain of EDAR Abolishes the Interaction with EDARADD and Underlies Hypohidrotic Ectodermal Dysplasia
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Authors: Bal, E., Baala, L., Cluzeau, C., El Kerch, F., Ouldim, K., Hadj-Rabia, S., Bodemer, C., Munnich, A., Courtois, G., Sefiani, A., & Smahi, A.
Affiliations: Hôpital Necker-Enfants Malades (FR)
Institut National d'Hygiène du Maroc (MA)
Inserm (FR)
Corresponding author: Smahi, A.
ORCID: Baala, L.
Cluzeau, C.
Ouldim, K.
Hadj-Rabia, S.
Bodemer, C.
Courtois, G.
Sefiani, A.
Smahi, A.
Venue: Human Mutation
Publisher: Hindawi Limited
Published: 2007
Volume: 28
Issue: 7
Pages: 703-709
ISSN: 1059-7794 (ISSN-L)
1098-1004
DOI: 10.1002/humu.20500
OpenAlex: W2133233551
Cited by: 100
References: 38
Citations by year: 2026: 2 · 2025: 1 · 2024: 9 · 2023: 5 · 2022: 5 · 2021: 4 · 2020: 6 · 2019: 4 · 2018: 3 · 2017: 3 · 2016: 1 · 2015: 4 · 2014: 4 · 2013: 8 · 2012: 7
FWCI: 3.71
Type: journal article
Language: en
Open access: closed
Licence: doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 3165 d)
Locations: Human Mutation (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Health Sciences › Medicine › Urology › Hair Growth and Disorders
Keywords: hypohidrotic ectodermal dysplasia, EDARADD, autosomal dominant inheritance, missense mutations, death domain, NF-κB activation, ectodysplasin, TNF receptor, dominant negative effect, gene mapping, Moroccan families
MeSH terms: Base Sequence, Female, Genes, Dominant, Humans, Male, Mutation, Pedigree, Phenotype, NF-kappa B, DNA Primers, Edar Receptor, Ectodermal Dysplasia 1, Anhidrotic

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Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

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