一例肝豆状核变性家庭的ATP7B基因突变研究

Study on ATP7B Gene Mutation in a Family With Wilson Disease

目的检测肝豆状核变性(Wilson Disease)患儿及其父母的ATP7B基因突变类型。方法采用全基因组外显子测序技术(WES)对1例肝豆状核变性患儿及其父母ATP7B基因进行检测。结果患儿母亲ATP7B-exon8基因发生了错义突变(c.2 333G>T),导致p.R778L;患儿父亲ATP7B-exon11基因发生了错义突变(c.2621C>T),导致p.A874V。结论患儿父母均为肝豆状核变性基因携带者。

Objective To investigate the type of ATP7B mutation in a child with Wilson disease and her parents. Methods Using whole-genome exon Sequencing（WES） to detect ATP7B gene in one patient with Wilson＇s disease and her parents. Results Missense mutations （c.2 333G〉T） in ATPTB-exon8 gene occurred in patient＇s mother, which lead to p.R778L;Missense mutations （c.2 621C〉T） in ATP7B-exon8 gene occurred in patient＇sfather, which lead to p.A874V. Conclusion Patient＇s parents are Wilson disease gene carriers.