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WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
Open accessAbstract
Odonto-onycho-dermal dysplasia (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, palmoplantar hyperkeratosis, and hyperhidrosis, was recently shown to be caused by a homozygous nonsense WNT10A mutation in three consanguineous Lebanese families. Here, we report on 12 patients, from 11 unrelated families, with ectodermal dysplasia caused by five previously undescribed WNT10A mutations. In this study, we show that (1) WNT10A mutations cause not only OODD but also other forms of ectodermal dysplasia, reaching from apparently monosymptomatic severe oligodontia to Schöpf-Schulz-Passarge syndrome, which is so far considered a unique entity by the findings of numerous cysts along eyelid margins and the increased risk of benign and malignant skin tumors; (2) WNT10A mutations are a frequent cause of ectodermal dysplasia and were found in about 9% of an unselected patient cohort; (3) about half of the heterozygotes (53.8%) show a phenotype manifestation, including mainly tooth and nail anomalies, which was not reported before in OODD; and (4) heterozygotes show a sex-biased manifestation pattern, with a significantly higher proportion of tooth anomalies in males than in females, which may implicate gender-specific differences of WNT10A expression.
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“It is also an autosomal recessive disorder that occurs due to a mutation in the WNT10A gene.[47] Clinical features include diffuse palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid apocrine hidrocystomas.[48]”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [47]
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Metadata
- Authors
- Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., & Röpke, A.
- Affiliations
- University of Münster (DE)
- Olgahospital (DE)
- Jena University Hospital (DE)
- University of Regensburg (DE)
- Martin Luther University Halle-Wittenberg (DE)
- Corresponding author
- Bohring, Axel
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2009-07
- Volume
- 85
- Issue
- 1
- Pages
- 97-105
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2706962
- OpenAlex
- W2004558834
- Cited by
- 232
- References
- 44
- Citations by year
- 2026: 9 · 2025: 8 · 2024: 16 · 2023: 11 · 2022: 13 · 2021: 7 · 2020: 11 · 2019: 13 · 2018: 18 · 2017: 14 · 2016: 24 · 2015: 7 · 2014: 25 · 2013: 23 · 2012: 13
- FWCI
- 4.30
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- University of Regensburg Publication Server (University of Regensburg) (acceptedVersion)
- 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
- WNT10A, ectodermal dysplasia, oligodontia, heterozygous carriers, novel mutations, nail dystrophy, dental anomalies, autosomal recessive inheritance, consanguinity
- MeSH terms
- Ectodermal Dysplasia, Female, Humans, Male, Mutation, Pedigree, Sex Characteristics, Wnt Proteins
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