{"title":"An Adult Case of Benign Recurrent Intrahepatic Cholestasis Due to <i>MYO5B</i> Deficiency.","authors":"Yusuke Mishima, Kota Tsuruya, Yosuke Tazawa, Yoshitaka Arase, Shunji Hirose, Koichi Shiraishi, Masayuki Tanaka, Sanae Isaki, Tsuneo Kitamura, Tatehiro Kagawa","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Abnormalities in <i>MYO5B</i>, which encodes an unconventional myosin Vb, not only cause microvillus inclusion disease but also cholestatic liver disease, including benign recurrent intrahepatic cholestasis (BRIC). However, <i>MYO5B</i>-related cholestasis has not yet been reported in Japan. In this study, we present the case of a female patient in her thirties, who had developed jaundice, without diarrhea, in the first year after birth. The jaundice spontaneously subsided and occasionally recurred. Whole-exome sequencing identified two pathogenic variants in <i>MYO5B</i>: a nonsense mutation (c. G1124A: p. W375X) and a missense mutation (c.C2470T: p.R824C). Therefore, the patient was diagnosed with <i>MYO5B</i>-associated BRIC. This is the first reported case of cholestasis with a defined <i>MYO5B</i> defect in Japan.</p>","PeriodicalId":38819,"journal":{"name":"Tokai Journal of Experimental and Clinical Medicine","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tokai Journal of Experimental and Clinical Medicine","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Abnormalities in MYO5B, which encodes an unconventional myosin Vb, not only cause microvillus inclusion disease but also cholestatic liver disease, including benign recurrent intrahepatic cholestasis (BRIC). However, MYO5B-related cholestasis has not yet been reported in Japan. In this study, we present the case of a female patient in her thirties, who had developed jaundice, without diarrhea, in the first year after birth. The jaundice spontaneously subsided and occasionally recurred. Whole-exome sequencing identified two pathogenic variants in MYO5B: a nonsense mutation (c. G1124A: p. W375X) and a missense mutation (c.C2470T: p.R824C). Therefore, the patient was diagnosed with MYO5B-associated BRIC. This is the first reported case of cholestasis with a defined MYO5B defect in Japan.
期刊介绍：
The Tokai Journal of Experimental and Clinical Medicine, also referred to as Tokai Journal, is an official quarterly publication of the Tokai Medical Association. Tokai Journal publishes original articles that deal with issues of clinical, experimental, socioeconomic, cultural and/or historical importance to medical science and related fields. Manuscripts may be submitted as full-length Original Articles or Brief Communications. Tokai Journal also publishes reviews and symposium proceedings. Articles accepted for publication in Tokai Journal cannot be reproduced elsewhere without written permission from the Tokai Medical Association. In addition, Tokai Journal will not be held responsible for the opinions of the authors expressed in the published articles.
分享
京公网安备 11010802042870号
京ICP备2023020795号-1
求助内容：
应助结果提醒方式：
扫码关注我们
