A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.
Abstract
X-linked hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by the hypoplasia or absence of eccrine glands, dry skin, scant hair, and dental abnormalities. Here, we report a Mongolian family with congenital absence of teeth inherited in an X-linked fashion. The affected members of the family did not show other HED characteristics, except hypodontia. We successfully mapped the affected locus to chromosome Xq12-q13.1, and then found a novel missense mutation, c.193C>G, in the ectodysplasin A (EDA) gene in all affected males and carrier females. The mutation causes arginine to be replaced by glycine in codon 65 (R65G) in the juxtamembrane region of EDA. In addition, 33% (3/9) of female carriers have a skewed X-chromosome inactivation pattern. Our result strongly suggests that the c.193C>G mutation is the disease-causing mutation in this family.
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There are several reports of hypodontia in humans resulting from altered EDA function that do not show other phenotypes such as hypothrichosis or nail defects.
“There are several reports of hypodontia in humans resulting from altered EDA function that do not show other phenotypes such as hypothrichosis or nail defects [50]–[52].”
From Zebrafish eda and edar Mutants Reveal Conserved and Ancestral Roles of Ectodysplasin Signaling in Vertebrates (2008) · cites this paper as [51]
Cites
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 · see citing works
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Harris, M. P., Rohner, N., Schwarz, H., Perathoner, S., Konstantinidis, P., & Nüsslein-Volhard, C. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000206 · Cited by 224 · see citing works
The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective
Gao, Y., Jiang, X., Wei, Z., Long, H., & Lai, W. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1168538 · Cited by 33 · see citing works
- Authors
- Tao, R., Jin, B., Guo, S. Z., Qing, W., Feng, G. Y., Brooks, D. G., Liu, L., Xu, J., Li, T., Yan, Y., & He, L.
- Affiliations
- Shanghai Jiao Tong University (CN)
- Merck & Co., Inc., Rahway, NJ, USA (United States) (US)
- Nanjing University of Science and Technology (CN)
- Yangpu Hospital of Tongji University (CN)
- Corresponding author
- He, Lin
- Venue
- Journal of Human Genetics
- Published
- 2006-04-01
- Volume
- 51
- Issue
- 5
- Pages
- 498-502
- ISSN
- 1434-5161 (ISSN-L)
- 1435-232X
- OpenAlex
- W2035112815
- Cited by
- 104
- References
- 1
- Citations by year
- 2025: 2 · 2023: 1 · 2022: 2 · 2021: 1 · 2020: 2 · 2019: 2 · 2018: 10 · 2017: 5 · 2016: 9 · 2015: 8 · 2014: 8 · 2013: 13 · 2012: 5
- FWCI
- 3.40
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Natural Science Foundation of China
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Health Sciences › Medicine › Urology › Hair Growth and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- EDA gene, ectodysplasin A, X-linked hypohidrotic ectodermal dysplasia, missense mutations, juxtamembrane region, locus mapping, X-chromosome inactivation skewing, female carriers
- MeSH terms
- Anodontia, Base Sequence, Family, Female, Haplotypes, Humans, Male, Membrane Proteins, Molecular Sequence Data, Mongolia, Pedigree, Mutation, Missense, Chromosomes, Human, X, Tumor Necrosis Factors, Ectodysplasins
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