华西口腔医学杂志2026，Vol.44Issue(2)：206-214,9.DOI:10.7518/hxkq.2026.2025131
家族性非综合征型先天缺牙全基因组测序及分析
Whole genome sequencing and analysis of familial nonsyndromic congenital tooth agenesis
摘要
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 micror-chidia family CW-type zinc finger 4(MORC4)(c.1726C>T,p.Arg576Ter).Among these variants,LAMA2 was associ-ated with a severe tooth agenesis phenotype.The findings offer novel clues toward understanding the etiopathogenesis of this condition.关键词
非综合征型先天缺牙/全基因组测序/基因突变/层粘连蛋白亚基α2Key words
nonsyndromic congenital tooth agenesis/whole genome sequencing/gene mutation/laminin sub-unit alpha 2分类
生物科学引用本文复制引用
郑月梅,王丹,蒋彤阳,杨丹曲,卢虹..家族性非综合征型先天缺牙全基因组测序及分析[J].华西口腔医学杂志,2026,44(2):206-214,9.基金项目
Science and Technology Foundation of Guizhou Provincial Health Commission(gzwkj2022-433) （gzwkj2022-433）
Hori-zontal Research Project of Stomatological Hospital of Guizhou Medical University(GYKQ2022HX02) 贵州省卫生健康委科学技术基金(gzwkj2022-433) （GYKQ2022HX02）
贵州医科大学附属口腔医院横向课题(GYKQ2022HX02) （GYKQ2022HX02）
