1例COL4A5基因新突变致Alport综合征的遗传学分析  

Genetic analysis of Alport syndrome caused by a novel mutation in the COL4A5 gene:A case report

作　　者：王一丹 杨亚亚 高健[1] WANG Yidan;YANG Yaya;GAO Jian(Reproductive Genetics Department of Hebei General Hospital,Shijiazhuang,Hebei 050051,China)

机构地区：[1]河北省人民医院生殖遗传科,河北石家庄050051

出　　处：《中国优生与遗传杂志》2024年第4期798-801,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的报道1例COL4A5基因新突变致Alport综合征患者,探讨Alport综合征基因型与表型之间的关系,分析该新突变的致病性及遗传方式,为患者母亲提供遗传咨询和产前诊断。方法收集先证者临床资料,提取外周血DNA行芯片捕获高通量测序,发现异常突变位点后,对家系其他成员行Sanger验证。结果先证者及其母亲COL4A5基因均存在c.2723G>A(p.Gly908Glu)突变,考虑该突变致病可能性大,先证者母亲行产前诊断结果示胎儿为该基因半合子突变,将来发展为Alport综合征的可能性极大,先证者父母了解相关风险后要求引产。结论COL4A5基因c.2723G>A(p.Gly908Glu)突变可能导致Alport综合征。该结果丰富了COL4A5基因变异谱,对于Alport综合征家系行遗传咨询和指导再次妊娠具有重要意义。Objective To report a case of Alport syndrome caused by a novel mutation in the COL4A5 gene,to discuss the relationship between genotype and phenotype,to analyse the pathogenicity of the new mutation and its mode of inheritance,and to provide genetic counselling and prenatal diagnosis for the mother of the patient.Methods Clinical informations of the proband were collected,and the peripheral blood DNA was extracted for chip capture high-throughput sequencing.After discovering the abnormal mutation site,Sanger sequencing was performed on other members of the family tree.Results Genetic testing reveals that the proband and his mother have a missense mutation at the site 2723 in the COL4A5 gene[c.2723G>A(p.Gly908Glu)],which is considered to be highly pathogenic.The result of prenatal diagnosis shows that the fetus has the same mutation and it is at high risk of turning into Alport syndrome in the future.The proband's parents chose to terminate the pregnancy after learning about the risks.Conclusion Mutation in the COL4A5 gene[c.2723G>A(p.Gly908Glu)]may cause Alport syndrome.This result enriches the spectrum of COL4A5 gene variants,which is important for genetic counselling and guidance for re-pregnancy.

关 键 词：ALPORT综合征 COL4A5基因 错义突变 产前诊断 

分 类 号：R596[医药卫生—内科学]