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Cited by 233dental development and anomaliesGenetic and rare skin diseases.Hair Growth and Disorders

The DOI matches its Crossref record; 44 of the 44 references it cites were found in a registry or an index.

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

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Bohring, Axel, Stamm, Thomas, Spaich, Christiane, Haase, Claudia, Spree, Kerstin, Hehr, Ute, Hoffmann, Mandy, Ledig, Susanne, Sel, Saadettin, Wieacker, Peter, Röpke, Albrecht·2009·The American Journal of Human Genetics
DOI 10.1016/j.ajhg.2009.06.001PMC PMC2706962
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Abstract

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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Research works printed but not linked: 2

  1. Perret, 1989, Schöpf syndrome, Brit J Derm, 120, 131
  2. Küster, 1992, Das Schöpf-Syndrom, Hautarzt, 43, 763

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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
ORCID
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)
DOI
10.1016/j.ajhg.2009.06.001
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
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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