The WNT10A gene in ectodermal dysplasias and selective tooth agenesis
Article first published online: 3 APR 2014
© 2014 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 164, Issue 10, pages 2455–2460, October 2014
How to Cite
2014. The WNT10A gene in ectodermal dysplasias and selective tooth agenesis. Am J Med Genet Part A 9999:2455–2460., , , , , , .
- Issue published online: 15 SEP 2014
- Article first published online: 3 APR 2014
- Manuscript Accepted: 30 JAN 2014
- Manuscript Received: 8 OCT 2013
- NIH/NIDCR Awards. Grant Numbers: R03DE019554-01, R01DE019471-01, R01DE019471-02
- University of Pittsburgh School of Dental Medicine
- NIH. Grant Number: UL1 RR024153
- gene mutations;
- selective tooth agenesis;
- ectodermal dysplasia;
Mutations in the WNT10A gene were first detected in the rare syndrome odonto-onycho-dermal dysplasia (OODD, OMIM257980) but have now also been found to cause about 35–50% of selective tooth agenesis (STHAG4, OMIM150400), a common disorder that mostly affects the permanent dentition. In our random sample of tooth agenesis patients, 40% had at least one mutation in the WNT10A gene. The WNT10A Phe228Ile variant alone reached an allele frequency of 0.21 in the tooth agenesis cohort, about 10 times higher than the allele frequency reported in large SNP databases for Caucasian populations. Patients with bi-allelic WNT10A mutations have severe tooth agenesis while heterozygous individuals are either unaffected or have a mild phenotype. Mutations in the coding areas of the WNT10B gene, which is co-expressed with WNT10A during odontogenesis, and the WNT6 gene which is located at the same chromosomal locus as WNT10A in humans, do not contribute to the tooth agenesis phenotype. © 2014 Wiley Periodicals, Inc.