Keskin Gül, Karaer Kadri, Uçar Gündoğar Zübeyde
Department of Pediatric Dentistry, Gaziantep University, 27310, Gaziantep, Turkey.
Department of Medical Genetics, Pamukkale University, 20070, Denizli, Turkey.
J Orofac Orthop. 2022 Oct;83(Suppl 1):65-74. doi: 10.1007/s00056-021-00284-4. Epub 2021 Mar 16.
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 49 individuals aged between 6 and 13 years. A total of 14 genes related to nonsyndromic tooth agenesis were selected for targeted NGS. Mutations in Msh homeobox 1 (MSX1), Wnt family member 10A (WNT10A), axis inhibition protein 2 (AXIN2), keratin 17 (KRT17), lipoprotein receptor 6 (LRP6), and secreted protein, acidic and rich in cysteine (SPARC)-related modular calcium-binding protein 2 (SMOC2) genes were investigated.
Mutations in six genes were detected in 12 of 49 subjects. 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 a risk factor for hypodontia or oligodontia in the Turkish population.
本研究的目的是通过下一代测序（NGS）评估已知与牙齿发育不全相关的基因，并分析这些突变与牙齿发育不全表型之间的关系。
该研究纳入了49名年龄在6至13岁之间的个体。共选择了14个与非综合征性牙齿发育不全相关的基因进行靶向NGS。研究了Msh同源盒1（MSX1）、Wnt家族成员10A（WNT10A）、轴抑制蛋白2（AXIN2）、角蛋白17（KRT17）、脂蛋白受体6（LRP6）和富含半胱氨酸的酸性分泌蛋白（SPARC）相关模块化钙结合蛋白2（SMOC2）基因中的突变。
在49名受试者中的12名中检测到6个基因的突变。共鉴定出15个变异体，包括MSX1中未知的c.657G > C、AXIN2中c.2029C > T和LRP6中c.1603A > T变异体。在所有有突变的牙齿发育不全病例中，43.3%观察到第二前磨牙发育不全，这是每个突变基因观察到的主要表型，其次是侧切牙发育不全（20%）。
MSX1、WNT10A、AXIN2、KRT17、LRP6和SMOC2的变异可能是土耳其人群中牙齿发育不全或少牙症的危险因素。
