发现TULP3突变是一种罕见的隐源性肝硬化的原因：一个病例报告和文献复习

IF 3.3 Q2 GASTROENTEROLOGY & HEPATOLOGY

Journal of Clinical and Experimental Hepatology Pub Date : 2025-03-08 DOI:10.1016/j.jceh.2025.102542

Arpit Shastri , S. Balaraja , Arka De , Suvradeep Mitra , Ajay Duseja

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引用次数: 0

摘要

全外显子组测序可能有助于发现罕见的单基因原因隐源性肝硬化和门静脉高压症。tubby -like protein 3 （TULP3）基因编码tubby结构域蛋白家族，其突变与肾脏、心脏和肝脏等主要器官的进行性退行性疾病有关。在此，我们报告一例患有失代偿性肝硬化的年轻男性，最终被鉴定为纯合子致病性剪接供体变异c.492+1G >；TULP3基因5内含子中的A。

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Unearthing TULP3 Mutation as a Rare Cause of Cryptogenic Cirrhosis: A Case Report and Review of the Literature

Whole-exome sequencing may help unearth uncommon monogenic causes of cryptogenic cirrhosis and portal hypertension. Tubby-like protein 3 (TULP3) gene encodes the tubby domain family of proteins, mutations of which is associated with progressive degenerative disease of major organs such as kidney, heart, and liver. Here we report a case of a young male with decompensated cirrhosis who was ultimately identified with homozygous pathogenic splice donor variant c.492+1G > A in intron 5 of TULP3 gene.

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