一例DIAPH1基因复合杂合变异所致小头畸形-皮质盲综合征患儿的遗传学分析  

Genetic analysis of Microcephaly-cortical blind syndrome due to compound heterozygous variants of DIAPH1 gene

作　　者：李小兵 赖盼建 程楷超 王大燕 Li Xiaobing;Lai Panjian;Cheng Kaichao;Wang Dayan(Third Ward of Pediatric Medicine,Jinhua Maternal and Child Health Care Hospital,Jinhua,Zhejiang 321000,China)

机构地区：[1]金华市妇幼保健院儿内三病区,浙江321000

出　　处：《中华医学遗传学杂志》2022年第10期1116-1119,共4页Chinese Journal of Medical Genetics

基　　金：浙江省医药卫生科技计划(2020KY342)。

摘　　要：目的探讨一例小头畸形-皮质盲综合征患儿的遗传学病因。方法收集患儿的临床资料,应用高通量测序技术对患儿及其父母进行全外显子组测序(whole exome sequencing,WES)与Sanger测序验证。结果WES显示患儿DIAPH1基因存在c.1051C>T及c.609delA复合杂合变异。结论DIAPH1基因c.1051C>T(p.R351X)与c.609delA(p.E203Efs*19)复合杂合变异可能是该患儿小头畸形-皮质盲综合征的遗传学病因。Objective To explore the genetic etiology of a child with microcephaly-cortical blind syndrome.Methods Clinical data of the child was collected.The child and her parents were subjected to whole exome sequencing(WES).Candidate variants were validated by Sanger sequencing.Results WES revealed that the child has harbored compound heterozygous variants c.1051C>T and c.609delA of the DIAPH1 gene.Conclusion The compound heterozygous variation c.1051C>T(p.R351X)and c.609delA(p.E203Efs*19)of the DIAPH1 gene probably underlay the microcephaly-cortical blindness syndrome in this child.

关 键 词：小头畸形-皮质盲综合征 DIAPH1基因 癫痫发作 发育落后 

分 类 号：R725.9[医药卫生—儿科]