在杜宾-约翰逊综合征患者中发现了ABCC2基因的两种未确定意义的新变体

Q2 Biochemistry, Genetics and Molecular Biology
Ranran Shi, N. Geng, Zhenzhen Zhao, Yong Zhou, Yongning Xin
{"title":"在杜宾-约翰逊综合征患者中发现了ABCC2基因的两种未确定意义的新变体","authors":"Ranran Shi, N. Geng, Zhenzhen Zhao, Yong Zhou, Yongning Xin","doi":"10.14218/ge.2022.00019","DOIUrl":null,"url":null,"abstract":"Dubin-Johnson syndrome (DJS), also known as chronic idiopathic jaundice, black liver-jaundice syndrome, etc. most often develops in adolescents or young adults, and is more common in males, with clinical manifestations of asymptomatic long-term mild-moderate jaundice. The disease belongs to hereditary non-hemolytic jaundice. It is an autosomal recessive genetic disease caused by variants in the ATP-binding cassette subfamily C member ( ABCC2 ) gene. It is characterized by intermittent, predominantly conjugated hyperbilirubinemia and liver pigmentation. Routine ABCC2 gene variant analysis can help in the diagnosis of DJS. In the present study, we reported a patient with Dubin-Johnson syndrome who underwent jaundice-related gene sequencing and identified two novel unknown and significant variants: c.2439+5G>A(p.?) and c.2345_2347del (p.Tyr782_Leu783delinsPhe) of the ABCC2","PeriodicalId":12502,"journal":{"name":"Gene expression","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Two Novel Variants of Undetermined Significance in the ABCC2 Gene Were Identified in a Patient with Dubin-Johnson Syndrome\",\"authors\":\"Ranran Shi, N. Geng, Zhenzhen Zhao, Yong Zhou, Yongning Xin\",\"doi\":\"10.14218/ge.2022.00019\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Dubin-Johnson syndrome (DJS), also known as chronic idiopathic jaundice, black liver-jaundice syndrome, etc. most often develops in adolescents or young adults, and is more common in males, with clinical manifestations of asymptomatic long-term mild-moderate jaundice. The disease belongs to hereditary non-hemolytic jaundice. It is an autosomal recessive genetic disease caused by variants in the ATP-binding cassette subfamily C member ( ABCC2 ) gene. It is characterized by intermittent, predominantly conjugated hyperbilirubinemia and liver pigmentation. Routine ABCC2 gene variant analysis can help in the diagnosis of DJS. In the present study, we reported a patient with Dubin-Johnson syndrome who underwent jaundice-related gene sequencing and identified two novel unknown and significant variants: c.2439+5G>A(p.?) and c.2345_2347del (p.Tyr782_Leu783delinsPhe) of the ABCC2\",\"PeriodicalId\":12502,\"journal\":{\"name\":\"Gene expression\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gene expression\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14218/ge.2022.00019\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Biochemistry, Genetics and Molecular Biology\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene expression","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14218/ge.2022.00019","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
引用次数: 0

摘要

杜宾-约翰逊综合征(DJS),又称慢性特发性黄疸、黑肝黄疸综合征等,最常发生在青少年或青壮年,在男性中更为常见,临床表现为无症状的长期轻度-中度黄疸。该病属于遗传性非溶血性黄疸。它是一种由ATP结合盒亚家族C成员(ABCC2)基因变异引起的常染色体隐性遗传疾病。其特征是间歇性的,主要是结合型高胆红素血症和肝脏色素沉着。常规ABCC2基因变异分析有助于诊断DJS。在本研究中,我们报告了一名Dubin-Johnson综合征患者,他接受了与黄疸相关的基因测序,并鉴定了两种新的未知和显著的变体:ABCC2的c.2439+5G>a(p.?)和c.2345_2347del(p.Tyr782_Leu783delinsPhe)
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Two Novel Variants of Undetermined Significance in the ABCC2 Gene Were Identified in a Patient with Dubin-Johnson Syndrome
Dubin-Johnson syndrome (DJS), also known as chronic idiopathic jaundice, black liver-jaundice syndrome, etc. most often develops in adolescents or young adults, and is more common in males, with clinical manifestations of asymptomatic long-term mild-moderate jaundice. The disease belongs to hereditary non-hemolytic jaundice. It is an autosomal recessive genetic disease caused by variants in the ATP-binding cassette subfamily C member ( ABCC2 ) gene. It is characterized by intermittent, predominantly conjugated hyperbilirubinemia and liver pigmentation. Routine ABCC2 gene variant analysis can help in the diagnosis of DJS. In the present study, we reported a patient with Dubin-Johnson syndrome who underwent jaundice-related gene sequencing and identified two novel unknown and significant variants: c.2439+5G>A(p.?) and c.2345_2347del (p.Tyr782_Leu783delinsPhe) of the ABCC2
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Gene expression
Gene expression 生物-生物工程与应用微生物
CiteScore
3.80
自引率
0.00%
发文量
3
审稿时长
>12 weeks
期刊介绍: Gene Expression, The Journal of Liver Research will publish articles in all aspects of hepatology. Hepatology, as a research discipline, has seen unprecedented growth especially in the cellular and molecular mechanisms of hepatic health and disease, which continues to have a major impact on understanding liver development, stem cells, carcinogenesis, tissue engineering, injury, repair, regeneration, immunology, metabolism, fibrosis, and transplantation. Continued research and improved understanding in these areas will have a meaningful impact on liver disease prevention, diagnosis, and treatment. The existing journal Gene Expression has expanded its focus to become Gene Expression, The Journal of Liver Research to meet this growing demand. In its revised and expanded scope, the journal will publish high-impact original articles, reviews, short but complete articles, and special articles (editorials, commentaries, opinions) on all aspects of hepatology, making it a unique and invaluable resource for readers interested in this field. The expanded team, led by an Editor-in-Chief who is uniquely qualified and a renowned expert, along with a dynamic and functional editorial board, is determined to make this a premier journal in the field of hepatology.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信