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

Abstract

PURPOSE\nThe 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.\n\n\nMETHODS\nThe study included 49\xa0individuals aged between 6\xa0and 13\xa0years. A\xa0total of 14\xa0genes related to nonsyndromic tooth agenesis were selected for targeted NGS. Mutations in Msh homeobox\xa01 (MSX1), Wnt family member 10A (WNT10A), axis inhibition protein\xa02 (AXIN2), keratin\xa017 (KRT17), lipoprotein receptor\xa06 (LRP6), and secreted protein, acidic and rich in cysteine (SPARC)-related modular calcium-binding protein\xa02 (SMOC2) genes were investigated.\n\n\nRESULTS\nMutations in six genes were detected in 12\xa0of 49\xa0subjects. Fifteen variants were identified, including the unknown variants c.657G\u202f>\u202fC in MSX1, c.2029C\u202f>\u202fT in AXIN2, and c.1603A\u202f>\u202fT 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%).\n\n\nCONCLUSIONS\nVariations in MSX1, WNT10A, AXIN2, KRT17, LRP6, and SMOC2 may be a\xa0risk factor for hypodontia or oligodontia in the Turkish population.