一个Dubin-Johnson综合征家系临床特征及基因突变分析

›› 2019, Vol. 39 ›› Issue (11): 1583-1586.

一个Dubin-Johnson综合征家系临床特征及基因突变分析

陈巧彬¹,方琼¹,郑晓颖²,陈琅¹

1. 福建省立医院
2. 福建医科大学省立临床学院福建省立医院

收稿日期:2018-12-05 修回日期:2019-03-28 出版日期:2019-11-05 发布日期:2019-11-05
通讯作者: 陈琅 E-mail:chenlang11@qq.com

Clinical characteristics and gene mutation analysis of a genealogy with Dubin-Johnson syndrome

Received:2018-12-05 Revised:2019-03-28 Online:2019-11-05 Published:2019-11-05

摘要/Abstract

摘要： 目的　分析Dubin-Johnson综合征（DJS）患儿的临床及基因突变特点。方法　回顾分析2例DJS患儿的临床特征以及基因分析结果。结果先证者为姐姐，5岁，其妹妹3岁，均有间歇性黄疸，血清直接胆红素增高，肝功能正常。父母亲无黄疸症状。平素身体健康。基因分析证实，2例患儿均为ABCC2基因两个位点的复合杂合突变,一个来源于父亲chr10:101603625c.3811C>T（p.Arg1271Stop），为无义突变，一个来源于母亲chr10:101605417c.4024T>C(P.Ser1342Pro)，为错义突变。由于基因突变，使得多药耐药相关蛋白2(MRP2)合成障碍，丧失对非胆汁酸有机阴离子的转运功能。结论 ABCC2基因是DJS的致病基因，属于常染色体隐性遗传。

关键词: Dubin-Johnson综合征, ABCC2基因, 　常染色体隐性遗传

Abstract: Objective To analyze the clinical features and gene mutations of Dubin-Johnson syndrome(DJS). Methods Clinical features and gene testing results in two children with Dubin-Johnson syndrome were retrospectively analyzed. Results The proband is a 5 years old girl, and his younger sister is 3 years old, both of them had jaundice and direct bilirubin is high，but liver function is normal. Their parents are health. Genetic analysis found the two patients had Compound heterozygosis. One come father ,nonsence mutation of c.3811 C>T（p.Arg1271Stop）in ABCC2 gene, another come from mother, missense mutation of c.4024T>C(P.Ser1342Pro) in ABCC2 gene. ABCC2 mutations cause clinical symptoms by affecting the multidrug resistance-associated protein 2（MRP2）. Conclusions ABCC2 is the pathogenic gene of Dubin-Johnson syndrome, and its hereditary types is autosomal -recessive inheritance.

Key words: Dubin-Johnson syndrome , ABCC2, 　autosomal -recessive inheritance .

陈巧彬方琼郑晓颖陈琅. 一个Dubin-Johnson综合征家系临床特征及基因突变分析[J]. , 2019, 39(11): 1583-1586.