Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant ofB3GALNT2 gene
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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 the α-dystroglycanopathy in this fetus. Above results have provided a basis for genetic counseling of this pedigree.
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 the α-dystroglycanopathy in this fetus. Above results have provided a basis for genetic counseling of this pedigree.
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