一例由ABCC2基因新变异所致的Dubin-Johnson综合征患者的遗传学分析  

Genetic analysis of a case with Dubin-Johnson syndrome due to two novel variants of ABCC2 gene

作　　者：赵干业 赵学潮 刘莉娜 王聪慧 李倩倩[1] 孔祥东[1] Zhao Ganye;Zhao Xuechao;Liu Li′na;Wang Conghui;Li Qianqian;Kong Xiangdong(Genetics and Prenatal Diagnosis Center,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院妇产医学部遗传与产前诊断中心,郑州450052

出　　处：《中华医学遗传学杂志》2022年第9期974-978,共5页Chinese Journal of Medical Genetics

基　　金：郑州大学第一附属医院院内青年创新基金;河南省科技攻关计划(202102310391);郑州市科技惠民计划(2021KJH0003)。

摘　　要：目的探讨一例黄疸患者的的遗传学病因并进行鉴别诊断。方法收集患者及其父母的临床资料。通过高通量测序对患者代谢性肝病相关基因进行变异位点筛查,Sanger测序进行验证,生物信息学分析对致病性进行预测。结果高通量测序结果显示ABCC2基因(NM_000392)存在一个错义变异c.3011C>T(p.T1004I)和一个无义变异c.3541C>T(p.R1181X),Sanger测序验证后分别遗传自父母。两个变异尚未见报道,经生物信息学分析皆为致病性变异。结论患者为ABCC2基因c.3011C>T(p.T1004I)和c.3541C>T(p.R1181X)复合杂合变异引起的Dubin-Johnson综合征患者,其父母为携带者;本研究发现了ABCC2基因两个新变异,拓宽了ABCC2基因致病变异谱;基因检测利于Dubin-Johnson综合征的准确鉴别诊断。Objective To explore the genetic etiology and differential diagnosis for a patient with jaundice.Methods Clinical data of the patient and his parents were collected.Genes associated with metabolic liver diseases were subjected to high-throughput sequencing.The pathogenicity of the candidate variants was predicted by using bioinformatic software.Results High-throughput sequencing revealed that the proband has harbored two variants of the ABCC2 gene(NM_000392)including c.3011C>T(p.T1004I)and c.3541C>T(p.R1181X),which were respectively inherited from his father and mother.Both variants have been previously unreported and predicted to be pathogenic by bioinformatic analysis.Conclusion The proband was diagnosed with Dubin-Johnson syndrome due to the compound heterozygous variants of the ABCC2 gene.Genetic testing has enabled accurate differential diagnosis of Dubin-Johnson syndrome in this patient.

关 键 词：ABCC2基因 DUBIN-JOHNSON综合征 高通量测序 鉴别诊断 

分 类 号：R575[医药卫生—消化系统]