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
王一丹 1杨亚亚 1高健1
作者信息
- 1. 河北省人民医院生殖遗传科,河北石家庄 050051
- 折叠
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.
Abstract
Objective To report a case of Alport syndrome caused by a novel mutation in the COL4A5 gene,to dis-cuss the relationship between genotype and phenotype,to analyse the pathogenicity of the new mutation and its mode of in-heritance,and to provide genetic counselling and prenatal diagnosis for the mother of the patient.Methods Clinical informa-tions 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Key words
Alport syndrome/COL4A5 gene/missense mutation/prenatal diagnosis引用本文复制引用
出版年
2024
NETL
NSTL
万方数据