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The WNT10A gene in ectodermal dysplasias and selective tooth agenesis

Identifieur interne : 004607 ( Main/Exploration ); précédent : 004606; suivant : 004608

The WNT10A gene in ectodermal dysplasias and selective tooth agenesis

Auteurs : Gabriele Mues [États-Unis] ; John Bonds [États-Unis] ; Lilin Xiang [États-Unis] ; Alexandre R. Vieira [États-Unis] ; Figen Seymen [Turquie] ; Ophir Klein [États-Unis] ; Rena N. D'Souza [États-Unis]

Source :

American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2014-10.

RBID : ISTEX:34743E81C9EC0D81583DF15A0611AB6DCB0396D2

Abstract

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.

Url:

DOI: 10.1002/ajmg.a.36520

Affiliations:

Le document en format XML

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<front><div type="abstract">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.</div>
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The WNT10A gene in ectodermal dysplasias and selective tooth agenesis

The WNT10A gene in ectodermal dysplasias and selective tooth agenesis

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