Role of WNT10A in failure of tooth development in humans and zebrafish.

ABSTRACT:

Background

Oligodontia is a severe form of tooth agenesis characterized by the absence of six or more permanent teeth. Oligodontia has complex etiology and variations in numerous genes have been suggested as causal for the condition.

Methods

We applied whole-exome sequencing (WES) to identify the cause of oligodontia in a 9-year-old girl missing 11 permanent teeth. Protein modeling and functional analysis in zebrafish were also performed to understand the impact of identified variants on the phenotype.

Results

We identified a novel compound heterozygous missense mutation in WNT10A (c.637G>A:p.Gly213Ser and c.1070C>T:p.Thr357Ile) as the likely cause of autosomal recessive oligodontia in the child. Affected residues are located in conserved regions and variants are pred

SUBMITTER: Yuan Q 

PROVIDER: S-EPMC5702573 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature