中国首个着色性干皮病变异型家系的POLH突变研究

A POLH Mutation in the First Chinese Pedigree With Xeroderma Pigmentosum-variant and Review of the Literatures

目的检测一个着色性干皮病(xeroderma pigmentosum,XP)家系的基因突变。方法在2019年1—12月间,收集XP家系的临床资料和外周血标本,先证者采用新一代测序(next generation sequencing,NGS)进行测序,其余亲属采用Sanger测序验证。结果在一个中国家系中发现了POLH外显子9的无义突变(NM_006502.2,c.1066 C>T,p.Arg356Ter)和与XP相关的大片段缺失(外显子5-8)。结论中国XP家系,为XP的基因诊断和遗传咨询提供了重要信息。

Objective To detect gene mutation in a xeroderma pigmentosum(XP)family.Methods From January to December 2019,clinical data and peripheral blood samples of the XP family were collect.The proband was sequenced by next-generation sequencing(NGS),and the remaining relatives were verified by Sanger sequencing.Results It is identified a nonsense mutation(NM_006502.2,c.1066C>T,p.Arg356Ter)in exon 9 of the POLH and a large deletion(exons 5-8)that is associated with XP in a Chinese family.Conclusion It is reported a Chinese family with XP which provides important information for the genetic diagnosis and genetic counseling of XP.