摘要
本文报道了2个RNASEH2C基因复合杂合变异所致的Aicardi-Goutières综合征3型(Aicardi-Goutières syndrome type 3,AGS3)家系共3例患儿,并于患儿母亲再次妊娠时行产前基因诊断。3例患儿均表现为癫痫、小头畸形、四肢肌张力高及严重的语言、运动、智力障碍。基因分析示家系1先证者及其同胞弟弟RNASEH2C基因存在c.194G>A(p.Gly65Asp)及c.434G>T(p.Arg145Leu)杂合变异,分别遗传自母亲及父亲;家系2先证者RNASEH2C基因存在c.194G>A(p.Gly65Asp)及c.227C>T(p.Pro76Leu)杂合变异,分别遗传自父亲及母亲。结合临床,3例患儿均诊断为AGS3。2个家系患儿母亲再次妊娠行产前诊断,均只检出遗传自胎儿母亲的变异,未检出遗传自胎儿父亲的变异,提示胎儿为携带者,家属选择继续妊娠并足月分娩。随访新生儿至1周岁,生长发育暂未见异常。
Two pedigrees are reported here including two siblings and a boy who were diagnosed with Aicardi-Goutières syndrome type 3(AGS3)caused by compound heterozygous variation of RNASEH2C gene.Prenatal gene diagnosis was performed when their mothers were pregnant again.All three cases presented with epilepsy,microcephaly,muscular hypertonia and severe language,motor and mental retardation.In pedigree 1,genetic analysis showed compound heterozygous variants of c.194G>A(p.Gly65Asp)and c.434G>T(p.Arg145Leu)in the RNASEH2C gene of proband 1 and her younger brother,which were inherited from their mother and father respectively.While in pedigree 2,c.194G>A(p.Gly65Asp)and c.227C>T(p.Pro76Leu)compound heterozygous variants in the RNASEH2C gene were found in proband 2,which were inherited from his father and mother,respectively.Diagnosis of AGS3 was confirmed in these three cases based on their medical history and the testing results.The mothers from the two families underwent prenatal diagnosis in their subsequent pregnancy,and the variation only inherited from the mothers was detected,suggesting that the two fetuses are carriers.Both families chose to continue the pregnancy and delivered at full-term.No growth or development abnormalities were reported in the children during a one-year follow-up.
作者
李博红
王辉
刘洋
杨京鑫
徐志勇
谢建生
Li Bohong;Wang Hui;Liu Yang;Yang Jingxin;Xu Zhiyong;Xie Jiansheng(Medical Genetics Laboratory,Shenzhen Maternity and Child Healthcare Hospital the First School of Clinical Medicine,Southern Medical University,Shenzhen 518017,China)
出处
《中华围产医学杂志》
CAS
CSCD
北大核心
2021年第6期450-453,共4页
Chinese Journal of Perinatal Medicine
基金
深圳市科技创新委员会基础研究项目(JCYJ20170413092818116)。
关键词
神经系统畸形
神经系统自身免疫疾病
核糖核酸酶H
突变
产前诊断
Nervous system malformations
Autoimmune diseases of the nervous system
Ribonuclease H
Mutation
Prenatal diagnosis
