Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes : Analysis of a Turkish cohort.

Abstract

The goal of this study was to assess genes known to be associated with tooth agenesis with next-generation sequencing (NGS) and analyze the relationship between these mutations and tooth agenesis phenotypes. The study included 49individuals aged between 6and 13years. Atotal of 14genes related to nonsyndromic tooth agenesis were selected for targeted NGS. Mutations in Msh homeobox1 (MSX1), Wnt family member 10A (WNT10A), axis inhibition protein2 (AXIN2), keratin17 (KRT17), lipoprotein receptor6 (LRP6), and secreted protein, acidic and rich in cysteine (SPARC)-related modular calcium-binding protein2 (SMOC2) genes were investigated. Mutations in six genes were detected in 12of 49subjects. Fifteen variants were identified, including the unknown variants c.657G > C in MSX1, c.2029C > T in AXIN2, and c.1603A > T in LRP6. Second premolar tooth agenesis was observed in 43.3% of all tooth agenesis cases with mutations, and it was the predominant phenotype observed for each mutated gene, followed by tooth agenesis of the lateral incisors (20%). Variations in MSX1, WNT10A, AXIN2, KRT17, LRP6, and SMOC2 may be arisk factor for hypodontia or oligodontia in the Turkish population.