母源性COL1A1基因嵌合突变致胎儿成骨发育不全的产前诊断分析1例  

Prenatal diagnosis of osteogenesis imperfecta caused by mutation of COL1A1 gene associated with maternal gonosomal mosaicism

作　　者：李晓璇 侯菲[1] 金华[1] Li Xiaoxuan;Hou Fei;Jin Hua(Prenatal Diagnosis Center,Jinan Maternity and Child Care Hospital,Jinan 250000,China)

机构地区：[1]济南市妇幼保健院产前诊断中心,济南250000

出　　处：《国际遗传学杂志》2024年第3期214-218,共5页International Journal of Genetics

基　　金：国家重点研发计划(2021YFC1005301)

摘　　要：目的探讨1例超声提示四肢发育异常的胎儿的遗传学病因。方法在知情同意后对孕妇进行羊膜腔穿刺术,采集胎儿羊水及其父母外周血标本,提取DNA后通过全外显子测序技术筛选疑似致病变异,用Sanger测序进行家系验证。结果胎儿COL1A1基因存在c.1291G>A(p.G431S)杂合变异,为可能致病性变异,相关疾病为成骨发育不全(osteogenesis imperfecta,0I)。此变异来源于母亲,母亲此基因存在嵌合突变,嵌合比例为26.84%。结论应用全外显子测序技术明确了1例胎儿四肢发育异常的遗传学原因,为临床咨询及孕妇再生育提供了指导。Objective To explore the genetic etiology for a fetus with dysplasia of limbs.Methods Fetal amniotic fluid and peripheral blood of parents were collected for exon sequencing and G-banding karyotype analysis detection.Results The fetus was heterozygous for the COL1A1 mutation c.1291G>A(p.G431S)suspected to cause osteogenesis imperfecta(OI).The variant was also identifified in the DNA from the morther’s peripheral blood,who appeared to be a gonosomal mosaic carrier of the mutation,the chimeric ratio is 26.84%.Conclusion A prenatal dignosis of fetus with COL1A1 mutation induced dysplasia of limbs was confirmed,which has provided genetic counseling and reproductive guidance for the genealogy.

关 键 词：COL1A1基因 成骨发育不全 产前诊断 全外显子 

分 类 号：R714.5[医药卫生—妇产科学]