期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 164, 期 10, 页码 2455-2460出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36520
关键词
WNT10A; gene mutations; selective tooth agenesis; ectodermal dysplasia; WNT10B; WNT6
资金
- NIH/NIDCR [R03DE019554-01, R01DE019471-01, R01DE019471-02]
- University of Pittsburgh School of Dental Medicine
- NIH [UL1 RR024153]
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. (C) 2014 Wiley Periodicals, Inc.
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