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The WNT10A gene in ectodermal dysplasias and selective tooth agenesis
Gabriele Mues1, John Bonds, Lilin Xiang
1Department of Biomedical Sciences, Texas A&M University-HSC Baylor College of Dentistry, Dallas, Texas.
American Journal of Medical Genetics. Part A
|April 5, 2014
Summary
Mutations in the WNT10A gene are a significant cause of selective tooth agenesis, a common developmental disorder. Our study found WNT10A mutations in 40% of patients, with a specific variant highly prevalent in affected individuals.
Area of Science:
- Genetics
- Developmental Biology
- Oral Health
Background:
- Selective tooth agenesis (STHAG4) is a common congenital disorder affecting permanent dentition.
- WNT10A gene mutations were initially linked to odonto-onycho-dermal dysplasia (OODD).
Purpose of the Study:
- To investigate the role of WNT10A gene mutations in the etiology of selective tooth agenesis.
- To determine the frequency and impact of WNT10A variants in a cohort of tooth agenesis patients.
Main Methods:
- Genetic analysis of WNT10A, WNT10B, and WNT6 genes in patients with tooth agenesis.
- Comparison of allele frequencies with large population databases.
Main Results:
- WNT10A mutations were identified in 40% of the tooth agenesis patient cohort.
- The WNT10A Phe228Ile variant showed a significantly higher allele frequency (0.21) in patients compared to controls.
- Bi-allelic WNT10A mutations correlated with severe tooth agenesis, while heterozygous mutations resulted in mild or no phenotype.
- Mutations in WNT10B and WNT6 genes did not contribute to tooth agenesis.
Conclusions:
- WNT10A is a major causative gene for selective tooth agenesis.
- Specific WNT10A variants are strongly associated with the disorder.
- WNT10B and WNT6 are not implicated in the pathogenesis of tooth agenesis.
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