Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
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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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Hypohidrotic ectodermal dysplasia is classified based on the mutated gene and inheritance into X-linked HED-EDA1, EDAR, EDARADD, and X-linked HED with immunodeficiency NEMO/IKBKG.
“It is classified further based on the mutated gene and the type of inheritance[6]: (a) X-linked HED-EDA1 mutation (also known as Christ–Siemens Touraine syndrome) [X-linked recessive] (b) EDAR (EDA receptor) mutation- autosomal dominant and recessive (c) EDARADD (EDAR associated death domain encoding gene) mutation- autosomal dominant and recessive (d) X-linked HED with immunodeficiency- NEMO (NFK”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [6]
The Abstract (page not provided) identifies EDA1 with X-linked HED and EDAR and EDARADD with autosomal dominant and recessive forms; the Results also document both inheritance patterns for EDAR. The cited paper does not identify a NEMO/IKBKG immunodeficiency category or use the name Christ–Siemens–Touraine syndrome. It also identifies WNT10A as a cause of HED/EDA, which the cited classification omits. (LLM, conf=0.87)
Experimental — accuracy not yet measuredThe X-linked form of hypohidrotic ectodermal dysplasia is the most common, so males are predominantly affected, although female carriers can manifest partial symptoms in a mosaic pattern due to random X-inactivation or lyonisation.
“As the X-linked form is the most common, males are predominantly affected, although female carriers of an X-linked variant can manifest partial symptoms in a mosaic pattern due to random X-inactivation or lyonisation.”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [6]
The Abstract identifies EDA1 as responsible for X-linked HED/EDA, and the Discussion reports EDA1 mutations as the most prevalent in the cohort (58%). The Results say affected males were severely affected while female carriers were occasionally moderately affected. The paper does not attribute female carriers’ symptoms to a mosaic pattern or to random X-inactivation (lyonisation). (LLM, conf=0.88)
Experimental — accuracy not yet measuredFour genes (EDA, EDAR, EDARADD, WNT10A) account for 90% of HED cases.
“Four genes account for 90% of HED cases 3 -heterozygous mutations in EDA, EDAR, EDARADD or WNT10A.”
From Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review (2018) · cites this paper as [3]
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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
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2010-12-09
- Volume
- 32
- Issue
- 1
- Pages
- 70-72
- ISSN
- 1059-7794 (ISSN-L)
- 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
- 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
- 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, 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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