Case Report
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jan 14, 2015; 21(2): 699-703
Published online Jan 14, 2015. doi: 10.3748/wjg.v21.i2.699
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3
Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen
Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Hao-Zhe Sun, Shanghai Medical College, Fudan University, Shanghai 200032, China
Author contributions: Sun HZ analyzed the mutations and wrote the paper; Shi H designed the research, collected the clinical data and wrote the paper; Zhang SC and Shen XZ supervised the study and modified the manuscript.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Hong Shi, MD, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, No. 180 Fenglin Road, Shanghai 200032, China. shihongcn@hotmail.com
Telephone: +86-13681975287 Fax: +86-21-64038472
Received: April 20, 2014
Peer-review started: April 20, 2014
First decision: May 13, 2014
Revised: June 10, 2014
Accepted: July 11, 2014
Article in press: July 11, 2014
Published online: January 14, 2015
Processing time: 273 Days and 5.2 Hours
Abstract

Genotyping is conclusive for the diagnosis of progressive familial intrahepatic cholestasis type 3 (PFIC3). Here we report a Chinese patient of PFIC3 with compound mutations in the ABCB4 gene. Liver biopsy was performed on a 17-year-old male patient with intrahepatic cholestasis of unknown etiology. Liver histology findings are indicative of intrahepatic cholestasis with extensive fibrosis. Genotyping revealed c.175C>T (p.L59L) mutation in exon 4, c.504C>T (p.N168N) mutation in exon 6, c.711A>T (p.I237I) mutation in exon 8, c.874A>T (p.K292X) in exon 9 and a novel mutation, c.1804G>T (p.G602W) in exon 15. Based on these findings, the patient was diagnosed with PFIC3. The novel mutation p.G602W in exon 15 was predicted as probably damaging by PolyPhen-2 with a score of 0.986 (sensitivity: 0.54; specificity: 0.94) and was predicted to affect protein function with a SIFT score of 0.01.

Keywords: Liver disease; Cholestasis; Progressive familial intrahepatic cholestasis; ABCB4; Gene mutation

Core tip: This study described a 17-year-old Chinese male patient with a 2 years history of intrahepatic cholestasis of unknown etiology who was later diagnosed with progressive familial intrahepatic cholestasis type 3 through clinical findings and gene analysis which revealed multiple mutations in the ABCB4 gene. One novel mutation of the ABCB4 gene p.G602W has also been identified. The novel mutation p.G602W in exon 15 was predicted as probably damaging by PolyPhen-2, with a score of 0.986, and was predicted to affect protein function with a SIFT score of 0.01.