WNT10A mutations causing oligodontia

Abstract

Objectives: To identify the molecular genetic etiology of the families with non-syndromic multiple missing permanent teeth (oligodontia).

Materials and methods: Genomic DNA was isolated and measured, and whole-exome sequencing was performed. The obtained sequencing reads were aligned to the human reference genome and subsequently processed by a series of bioinformatics programs. Finally, short insertions/deletions and single nucleotide variations were annotated with dbSNP build 138.

Results: The proband of family 1 was missing 14 permanent teeth, and the mutational analysis revealed compound heterozygousWNT10A mutations (c.364A > T and c.511C > T). Two affected individuals in family 2 were missing 20 and 12 permanent teeth, respectively, and compound heterozygous WNT10A mutations (c.364A > T and c.637G > A) were also identified.

Conclusions: This study reveals compound heterozygousWNT10A missense mutations in two families with non-syndromic oligodontia which will improve the understanding of odontogenesis and the pathogenesis related to WNT10A mutations.

Keywords: Mutation; Non-syndromic; Oligodontia; WNT10A; Whole-exome sequencing.