B3GALNT2基因变异所致α-抗肌萎缩相关糖蛋白病一个家系的遗传学分析  

Genetic analysis of a Chinese family affected withα-dystroglycanopathy due to variant of B3GALNT2 gene

作　　者：曾丽娜[1] 林荔[1] 张艳[1] 林堃 许青[2] 林丛珊 Zeng Li′na;Lin Li;Zhang Yan;Lin Kun;Xu Qing;Lin Congshan(Center of Prenatal Diagnosis,the Affiliated Hospital of Putian College,Putian,Fujian 351100,China;Department of Obstetrics,the Affiliated Hospital of Putian College,Putian,Fujian 351100,China;Department of Ultrasonography,Putian Women and Child Health Care Hospital,Putian,Fujian 351100,China)

机构地区：[1]莆田学院附属医院产前诊断中心,莆田351100 [2]莆田学院附属医院产科,莆田351100 [3]莆田市妇幼保健院超声科,莆田351100

出　　处：《中华医学遗传学杂志》2023年第7期802-806,共5页Chinese Journal of Medical Genetics

基　　金：福建省中青年教师教育科研项目(JAT200536);莆田学院教育教学改革研究项目(JG202149)。

摘　　要：目的探讨1个2次妊娠均出现胎儿脑积水的家系的遗传学病因。方法收集2021年3月8日就诊于莆田学院附属医院1名孕妇的流产胎儿组织及其孕妇夫妇的外周血样,对其进行家系全外显子组测序(WES),对候选变异进行Sanger测序验证。结果胎儿携带B3GALNT2基因c.261-2A>G和c.536T>C(p.Leu179Pro)复合杂合变异,分别遗传自父母,经检索相关数据库国内既往未见报道,该变异可导致α-抗肌萎缩相关糖蛋白病引起胎儿脑积水。根据美国医学遗传学与基因组学学会变异相关指南,c.261-2A>G与c.536T>C均评级为可能致病性变异(PVS1+PM2_Supporting;PM3+PM2_Supporting+PP3+PP4)。结论B3GALNT2基因存在c.261-2A>G和c.536T>C(p.Leu179Pro)复合杂合变异为该家系胎儿出现α-抗肌萎缩相关糖蛋白病的致病原因,为家系的遗传咨询和再生育指导提供依据。Objective To explore the genetic basis for a Chinese pedigree affected with recurrent fetal hydrocephalus.Methods A couple who had presented at the Affiliated Hospital of Putian College on March 3,2021 was selected as the study subject.Following elective abortion,fetal tissue and peripheral blood samples were respectively obtained from the abortus and the couple,and were subjected to whole exome sequencing.Candidate variants were verified by Sanger sequencing.Results The fetus was found to harbor compound heterozygous variants of the B3GALNT2 gene,namely c.261-2A>G and c.536T>C,which were inherited from its father and mother,respectively.According to the guidelines of American College of Medical Genetics and Genomics,both variants were classified as pathogenic(PVS1+PM2_Supporting;PM3+PM2_Supporting+PP3+PP4).Conclusion The compound heterozygous variants of the B3GALNT2 gene probably underlay theα-dystroglycanopathy in this fetus.Above results have provided a basis for genetic counseling of this pedigree.

关 键 词：α-抗肌萎缩相关糖蛋白病 B3GALNT2基因 脑积水 全外显子组测序 

分 类 号：R714.5[医药卫生—妇产科学]