[Whole genome sequencing and analysis of familial nonsyndromic congenital tooth agenesis].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology Pub Date : 2026-04-01 DOI:10.7518/hxkq.2026.2025131

Yuemei Zheng, Dan Wang, Tongyang Jiang, Danqu Yang, Hong Lu

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Abstract

Congenital tooth agenesis impairs masticatory function and aesthetics and adversely affects craniofacial development. Although largely considered genetic in origin, its exact etiology remains unclear. This study reports three familial cases of nonsyndromic congenital tooth agenesis (NSTA). Whole genome sequencing (WGS) revealed five pathogenic variants: filamins-B (FLNB) (c.5186C>A, p.Ser1729Ter), methylcrotonyl coenzyme a carboxylase 2 (MCCC2) (c.91C>T, p.Gln31Ter; c.484C>T, p.Gln162Ter; c.340C>T, p.Gln114Ter), laminin subunit alpha 2 (LAMA2) (c.1084A>T, p.Arg362Ter), cathepsin C (CTSC) (c.748C>T, p.Arg250Ter), and chromatin remodeling protein microrchidia family CW-type zinc finger 4 (MORC4) (c.1726C>T, p.Arg576Ter). Among these variants, LAMA2 was associated with a severe tooth agenesis phenotype. The findings offer novel clues toward understanding the etiopathogenesis of this condition.

查看原文本刊更多论文

[家族性非综合征型先天性牙齿发育全基因组测序及分析]。

先天性牙齿发育不全损害咀嚼功能和美观，并对颅面发育产生不利影响。虽然主要被认为是遗传起源，但其确切的病因尚不清楚。本研究报告3例家族性非综合征性先天性牙齿发育不全（NSTA）。全基因组测序（WGS）发现5个致病变异：丝状蛋白- b （FLNB) （C . 5186c >A, p.Ser1729Ter）、甲基丁基辅酶A羧化酶2 （MCCC2) （C . 91c >T, p.Gln31Ter）、C . 484c >T, p.Gln162Ter）、C . 340c >T, p.Gln114Ter）、层合蛋白亚基α 2 (LAMA2) （C . 1084a >T, p.Arg362Ter）、组织蛋白酶C (CTSC) （C . 748c >T, p.Arg250Ter）和染色质重塑蛋白微藻家族cw型锌指4 (MORC4) （C . 1726c >T, p.Arg576Ter）。在这些变异中，LAMA2与严重的牙齿发育表型相关。这些发现为理解这种疾病的发病机制提供了新的线索。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology

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