biostudies-literatureYuan QNIDCR NIH HHSNational Institute of Dental and Craniofacial Research730-741https://www.ebi.ac.uk/biostudies/studies/S-EPMC5702573biostudies-literatureUnknown5(6)<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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 predMolecular genetics & genomic medicineRole of WNT10A in failure of tooth development in humans and zebrafish.PMC5702573R01 DE011931R01DE011931R03 DE024596R03DE024596Baugh EHLetra AYuan QTandon BLiu XHecht JTZhao MTran TSilva RMSwindell ECMaili LZhang AWagner DSfalseRole of WNT10A in failure of tooth development in humans and zebrafish.<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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 pred2017-01-01T00:00:00Z2017 Nov2026-04-16T17:26:03.843Z2026-04-07T14:17:33.922ZS-EPMC57025732917864310.1002/mgg3.332