家族性渗出性玻璃体视网膜病变家系的遗传学分析和产前诊断  

Genetic analysis and prenatal diagnosis of a Chinese pedigree with familial exudative vitreoretinopathy

作　　者：何凤娟 毛秀珍 He Fengjuan;Mao Xiuzhen(Prenatal Diagnosis Center of Suqian First People's Hospital,Suqian 223800,Jiangsu,China)

机构地区：[1]宿迁市第一人民医院产前诊断中心,江苏宿迁223800

出　　处：《中国产前诊断杂志（电子版）》2024年第3期21-25,共5页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：宿迁市“宿迁英才”群英计划青年资助项目([2022]QNXM-0050);宿迁市科技计划资助项目(K202212)。

摘　　要：目的 对1例罕见家族性渗出性玻璃体视网膜病变病例进行遗传学分析,以确定其致病原因并对该家系胎儿进行产前诊断。方法 应用家系全外显子测序对一个家族性渗出性玻璃体视网膜病变病例进行检测,通过生物信息学分析,以确定其致病原因,并对变异位点进行Sanger测序验证,并对胎儿进行遗传咨询和产前诊断。结果 先证者在KIF11基因的第9外显子存在c.1093delG(p.Val365*)的移码变异,根据ACMG相关指南进行评级,提示该变异为致病性突变,可能是先证者患病的主要原因;该家系的正常个体及胎儿均未检测到该变异。结论 KIF11基因的c.1093delG(p.Val365*)变异在以往的研究中未见报道,丰富了KIF11基因的变异谱,并对该家庭再生育提供遗传咨询和产前诊断。Objective To explore the genetic etiology for a Chinese pedigree affected with familial exudative vitreoretinopathy.Methods A FEVR pedigree was detected by whole exome sequencing(WES).Candidate variant was validated by Sanger sequencing and bioinformatics analysis.prenatal diagnosis and genetic counseling for the once again fetus.Results The WES results showed that the proband has harbored a frameshift variation c.1093delG(p.Val365*) of exon 9 in KIF11 gene.Based on guidelines from the American College of Medical Genetics(ACMG),the variation was predicted as pathogenic.Sanger sequencing confirmed that the variation was not detected in the normal individuals and the fetus of the family.Conclusion The frameshift variation c.1093delG(p.Val365*) of KIF11 gene was reported for the first time been reported in previous studies,which enriches the mutation spectrum of KIF11 gene.This study expanded the mutation spectrum of KIF11gene.

关 键 词：家族性渗出性玻璃体视网膜病变 KIF11基因 产前诊断 全外显子测序 

分 类 号：R715.5[医药卫生—妇产科学]