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.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jul 10;40(7):802-806. doi: 10.3760/cma.j.cn511374-20220624-00426.
To explore the genetic basis for a Chinese pedigree affected with recurrent fetal hydrocephalus.
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.
The fetus was found to harbor compound heterozygous variants of the B3GALNT2 gene, namely c.261-2A>G and c.536T>C (p.Leu179Pro), 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).
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.
探究一个患有复发性胎儿脑积水的中国家系的遗传基础。
选取2021年3月3日就诊于莆田学院附属医院的一对夫妇作为研究对象。在选择性流产后，分别从流产胎儿及夫妇双方获取胎儿组织和外周血样本，并进行全外显子测序。候选变异通过桑格测序进行验证。
发现胎儿携带B3GALNT2基因的复合杂合变异，即c.261 - 2A>G和c.536T>C（p.Leu179Pro），分别遗传自其父亲和母亲。根据美国医学遗传学与基因组学学会的指南，这两个变异均被分类为致病性变异（PVS1 + PM2_支持；PM3 + PM2_支持 + PP3 + PP4）。
B3GALNT2基因的复合杂合变异可能是该胎儿α - dystroglycanopathy的病因。上述结果为该家系的遗传咨询提供了依据。
