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Cited by 45dental development and anomaliesHair Growth and DisordersGenetic and rare skin diseases.

Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A).

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Li, Shufeng, Li, Jiahuang, Cheng, Jian, Zhou, Bingrong, Tong, Xin, Dong, Xiangbai, Wang, Zixing, Hu, Qingang +2 more·2008·PLoS ONE
DOI 10.1371/journal.pone.0002396PMC PMC2405930
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Abstract

Here we report two unrelated Chinese families with congenital missing teeth inherited in an X-linked manner. We mapped the affected locus to chromosome Xp11-Xq21 in one family. In the defined region, both families were found to have novel missense mutations in the ectodysplasin-A (EDA) gene. The mutation of c.947A>G caused the D316G substitution of the EDA protein. The mutation of c.1013C>T found in the other family resulted in the Thr to Met mutation at position 338 of EDA. The EDA gene has been reported responsible for X-linked hypohidrotic ectodermal dysplasia (XLHED) in humans characterized by impaired development of hair, eccrine sweat glands, and teeth. In contrast, all the affected individuals in the two families that we studied here had normal hair and skin. Structural analysis suggests that these two novel mutants may account for the milder phenotype by affecting the stability of EDA trimers. Our results indicate that these novel missense mutations in EDA are associated with the isolated tooth agenesis and provide preliminary explanation for the abnormal clinical phenotype at a molecular structural level.

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Cited by

Sorted by citations

Authors
Li, S., Li, J., Cheng, J., Zhou, B., Tong, X., Dong, X., Wang, Z., Hu, Q., Chen, M., & Hua, Z.-C.
Affiliations
State Key Laboratory of Pharmaceutical Biotechnology (CN)
Corresponding author
Hua, Zi-Chun
ORCID
Venue
PLoS ONE
Publisher
Public Library of Science (PLoS)
Published
2008-06-11
Volume
3
Issue
6
Pages
e2396
ISSN
1932-6203 (ISSN-L)
DOI
10.1371/journal.pone.0002396
PMC
PMC2405930
OpenAlex
W1973062643
Cited by
45
References
2
Citations by year
2025: 3 · 2024: 3 · 2023: 2 · 2022: 1 · 2021: 1 · 2018: 2 · 2017: 1 · 2016: 2 · 2014: 4 · 2013: 6 · 2012: 3
FWCI
2.03
Type
journal article
Language
en
Open access
Licence
Locations
  • PLoS ONE (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • Jilin University
  • Nanjing University
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
non-syndromic tooth agenesis, ectodysplasin A, EDA gene, missense mutations, X-linked inheritance, X-linked hypohidrotic ectodermal dysplasia, protein stability, Chinese family
MeSH terms
Chromosome Mapping, Dental Enamel Hypoplasia, Female, Humans, Male, Models, Molecular, Pedigree, Syndrome, Tumor Necrosis Factor-alpha, Mutation, Missense, Chromosomes, Human, X, Ectodysplasins

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