New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report

作     者：Chun-Shan Wei Naja Becher Jenny Blechingberg Friis Peter Ott Ida Vogel Henning Grønbæk 

作者机构：Department of Clinical Medicine-Department of Hepatology and GastroenterologyAarhus University HospitalAarhus N DK-8200Denmark Department of HepatologyShenzhen Traditional Chinese Medicine HospitalThe Fourth Clinical Medical College of Guangzhou University of Chinese MedicineShenzhen 518033Guangdong ProvinceChina Department of Clinical GeneticsAarhus University HospitalAarhus N DK-8200Denmark 

出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)

年 卷 期：2020年第26卷第5期

页      面：550-561页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：Supported by Sanming Project of Medicine in Shenzhen of China No.SZSM201612074 

主　　题：Progressive familial intrahepatic cholestasis Tight junction protein 2 Genetic variants Liver cirrhosis Liver cancer Case report 

摘      要：BACKGROUND Progressive familial intrahepatic cholestasis(PFIC)encompasses a group of autosomal recessive disorders with high morbidity and *** in the gene encoding tight junction protein-2(TJP2)have been linked to PFIC type 4(PFIC4),which predominantly presents in ***,there are only limited data from adults with TJP2-related *** report a family with an autosomal recessive disorder with a novel variant in the TJP2 gene in adults with very variable expression of *** SUMMARY The index patient presented at 19 years old with liver cirrhosis and variceal bleeding and was treated with endoscopic banding and *** 2018,he developed primary liver cancer that was treated with radiofrequency ablation followed by liver transplantation in *** testing revealed a novel homozygous TJP2 variant causing PFIC4(TJP2([NM_004817.3]:c.[3334CT];[3334CT])).The consanguineous family consists of the father and mother(both heterozygous)and their 12 children,of which five carry the variant in a homozygous state;however,these five siblings have highly variable expression of *** homozygous brothers had cirrhosis and portal hypertension at diagnosis at the ages of 19 and *** other homozygous brothers,age 23 and 19,and the homozygous sister,age 21,have elevated liver enzymes but presently no cirrhosis,which may suggest an age-dependent *** addition,five sisters had severe and mild intrahepatic cholestasis of pregnancy and carry the TJP2 variant in a homozygous and heterozygous state,*** This novel TJP2 variant is associated with PFIC4 causing severe liver disease with cirrhosis and primary liver cancer in adolescents/adults.