BRWD3缺失导致的X连锁智力障碍93型胎儿一例产前诊断及遗传学分析  

Prenatal diagnosis and genetic analysis of a fetus with X-linked intellectual developmental disorder-93 caused by BRWD3 deficiency

作　　者：高越[1] 肖海[1] 吴东[1] 张梦汀 王凤阳 张倩[1] 王红丹[1] 侯巧芳[1] 廖世秀[1] GAO Yue;XIAO Hai;WU Dong;ZHANG Mengting;WANG Fengyang;ZHANG Qian;WANG Hongdan;HOU Qiaofang;LIAO Shixiu(Institute of Medical Genetics of Henan Provincial People′s Hospital,Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics,Zhengzhou 450003)

机构地区：[1]河南省人民医院医学遗传研究所,河南省遗传性疾病功能基因组重点实验室,郑州450003

出　　处：《郑州大学学报（医学版）》2023年第3期441-444,共4页Journal of Zhengzhou University(Medical Sciences)

基　　金：河南省科技攻关项目(212102310046);河南省医学科技攻关项目(SBGJ202003001)。

摘　　要：目的:探讨双侧侧脑室增宽胎儿的产前遗传学病因及分子机制,为遗传咨询提供依据。方法:应用染色体核型G显带和微阵列比较基因组杂交(aCGH)技术分析双侧侧脑室增宽胎儿及其父母染色体核型和全基因组拷贝数变异,明确胎儿病因。结果:G显带核型分析结果显示胎儿及其父母染色体核型均未见异常。aCGH结果显示胎儿Xq21.1存在596678 bp缺失,包含部分单倍剂量效应基因BRWD3,该缺失为致病性拷贝数变异。家系验证结果显示该缺失遗传自胎儿母亲。家属最终选择终止妊娠。结论:Xq21.1微缺失导致的X连锁智力障碍93型可能是胎儿出现超声异常的原因,BRWD3是该区域的关键基因。Aim:To analyze the prenatal genetic etiology and molecular mechanism of a fetus with bilateral lateral ventriculomegaly,and to provide evidences for genetic counseling.Methods:Conventional G-banding and array comparative genomic hybridization(aCGH)were used to analyze the karyotype and genomic copy number variation of a fetus with bilateral lateral ventriculomegaly and its parents,and to identify the etiology of the fetus.Results:G-banding analysis revealed that their karyotype results were normal,aCGH analysis identified a 596678 bp deletion at Xq21.1 region in the fetus,which contained part of BRWD3 gene,a haploid dose sensitive gene,and the deletion was classified as pathogenic.Pedigree verification result showed that the deletion was inherited from the mother,and they finally chose to terminate pregnancy.Conclusion:X-linked intellectual developmental disorder-93 caused by Xq21.1 region microdeletion may be the cause of fetal ultrasound abnormalities,and BRWD3 is the key gene in this region.

关 键 词：侧脑室增宽 微阵列比较基因组杂交 X连锁智力障碍 BRWD3缺失 

分 类 号：R394.1[医药卫生—医学遗传学]