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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
Open accessAbstract
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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“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]
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“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]
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“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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Citations
Cites
De Novo Hair Follicle Morphogenesis and Hair Tumors in Mice Expressing a Truncated β-Catenin in Skin
Gat, U., DasGupta, R., Degenstein, L., & Fuchs, E. (1998) · Cell · doi:10.1016/s0092-8674(00)81631-1 · Cited by 1,089
Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B., Munoz, F., Morgan, D., Clarke, A., Baybayan, P., et al. (1996) · Nature Genetics · doi:10.1038/ng0895-409 · Cited by 749
Ectodermal dysplasias: A clinical classification and a causal review
Pinheiro, M., & Freire‐Maia, N. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320530207 · Cited by 413
Monreal, A. W., Ferguson, B. M., Headon, D. J., Street, S. L., Overbeek, P. A., & Zonana, J. (1999) · Nature Genetics · doi:10.1038/11937 · Cited by 397
Gene defect in ectodermal dysplasia implicates a death domain adapter in development
Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., & Overbeek, P. A. (2001) · Nature · doi:10.1038/414913a · Cited by 378
Yan, M., Wang, L.-C., Hymowitz, S. G., Schilbach, S., Lee, J., Goddard, A. D., de Vos, A. M., Gao, W., & Dixit, V. M. (2000) · Science · doi:10.1126/science.290.5491.523 · Cited by 312
Adaimy, L., Chouery, E., Mégarbané, H., Mroueh, S., Delague, V., Nicolas, E., Belguith, H., de Mazancourt, P., & Mégarbané, A. (2007) · The American Journal of Human Genetics · doi:10.1086/520064 · Cited by 248
Regulation of hair follicle development by the TNF signal ectodysplasin and its receptor Edar
Laurikkala, J., Pispa, J., Jung, H.-S., Nieminen, P., Mikkola, M. L., Wang, X., Saarialho‐Kere, U., Galcerán, J., Grosschedl, R., & Thesleff, I. (2002) · Development · doi:10.1242/dev.129.10.2541 · Cited by 244
Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.06.001 · Cited by 232
Bayés, M., Hartung, A. J., Ezer, S., Pispa, J., Thesleff, I., Srivastava, A. K., & Kere, J. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.11.1661 · Cited by 221
Cited by
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Modeling Recent Human Evolution in Mice by Expression of a Selected EDAR Variant
Kamberov, Y. G., Wang, S., Tan, J., Gerbault, P., Wark, A. R., Tan, L., Yang, Y., Li, S., Tang, K., Chen, H., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.016 · Cited by 277
Mutations in WNT10A are present in more than half of isolated hypodontia cases
van den Boogaard, M. H., Créton, M. A., Bronkhorst, Y., van der Hout, A. H., Hennekam, E. A. M., Lindhout, D., Cune, M. S., & van Amstel, H. K. P. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-100750 · Cited by 214
Neurocristopathies: New insights 150 years after the neural crest discovery
Vega‐López, G. A., Cerrizuela, S., Tríbulo, C., & Aybar, M. J. (2018) · Developmental Biology · doi:10.1016/j.ydbio.2018.05.013 · Cited by 219
Adhikari, K., Fuentes-Guajardo, M., Quinto-Sánchez, M., Mendoza-Revilla, J., Camilo Chacón-Duque, J., Acuña-Alonzo, V., Jaramillo, C., Arias, W., Lozano, R. B., Pérez, G. M., et al. (2016) · Nature Communications · doi:10.1038/ncomms11616 · Cited by 200
Salivary gland function, development, and regeneration
Chibly, A. M., Aure, M. H., Patel, V. N., & Hoffman, M. P. (2022) · Physiological Reviews · doi:10.1152/physrev.00015.2021 · Cited by 219
Metadata
- 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
- 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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