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LSR 基因的双等位基因突变导致一种新型婴儿肝内胆汁淤积症。

Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis.

机构信息

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohama-shi Tobu Hospital, Kanagawa, Japan.

出版信息

J Pediatr. 2020 Jun;221:251-254. doi: 10.1016/j.jpeds.2020.01.064. Epub 2020 Apr 14.

DOI:10.1016/j.jpeds.2020.01.064
PMID:32303357
Abstract

We identified biallelic pathogenic mutations in the Lipolysis-stimulated lipoprotein receptor (LSR) gene in a patient with infantile intrahepatic cholestasis. We established that mutations in the LSR gene, which encodes a protein which is critical for the formation of tricellular tight junctions in the liver, are a novel cause of pediatric cholestasis.

摘要

我们在一名婴儿期肝内胆汁淤积症患者中鉴定出了脂肪分解刺激脂蛋白受体（LSR）基因的双等位致病性突变。我们证实，编码在肝脏中形成三细胞紧密连接的关键蛋白的 LSR 基因突变是小儿胆汁淤积症的一个新病因。

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