Case Report
Copyright ©2014 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Jan 7, 2014; 20(1): 326-329
Published online Jan 7, 2014. doi: 10.3748/wjg.v20.i1.326
Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China
Li-Ting Li, Jing Zhao, Rui Chen, Jian-She Wang
Li-Ting Li, Jing Zhao, Rui Chen, Jian-She Wang, Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai 201102, China
Jian-She Wang, Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai 201508, China
Author contributions: Wang JS contributed to study design, patient management and supervised the genetic studies and manuscript preparation; Li LT performed literature research, genetic studies, data analysis and manuscript preparation; Zhao J and Chen R performed sample collection and patient follow-up.
Supported by National Natural Science Foundation of China, No. 81070281
Correspondence to: Jian-She Wang, Professor, Department of Pediatrics, Jinshan Hospital of Fudan University, No.1508 Longhang Road, Jinshan District, Shanghai 201508, China. jshwang@shmu.edu.cn
Telephone: +86-21-64931171 Fax: +86-21-64931901
Received: July 30, 2013
Revised: October 27, 2013
Accepted: November 12, 2013
Published online: January 7, 2014
Processing time: 174 Days and 5.9 Hours
Abstract

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. We present a female infant with neonatal intrahepatic cholestasis from a Chinese family with ARC syndrome. All 23 coding exons and flanking introns of the VPS33B gene were amplified and sequenced using peripheral lymphocyte genomic DNA of the patient and her parents. Genetic testing revealed two novel mutations (c.1033delA and c.1567C>T) in the VPS33B gene. The patient is a compound heterozygote and her parents were heterozygous for each of the mutations.

Keywords: Arthrogryposis, renal dysfunction and cholestasis syndrome; Cholestasis; VPS33B; Gene; Mutation

Core tip: In our study, we present a female infant with neonatal intrahepatic cholestasis from a Chinese family, who was eventually diagnosed with arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome by genetic analysis. She will be the first patient with ARC syndrome reported in China. Genetic testing revealed two novel mutations (c.1033delA, p.I345LfsX8 and c.1567C>T, p.R523X) in VPS33B, which is the causative gene. The patient is a compound heterozygote and her parents were heterozygous for each mutation. Our paper will expand the worldwide distribution of ARC syndrome and the mutation spectrum of VPS33B.