Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 26, 2022; 10(30): 11016-11022
Published online Oct 26, 2022. doi: 10.12998/wjcc.v10.i30.11016
Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report
Hui Yang, Shuang-Zhu Lin, Shi-Hui Guan, Wan-Qi Wang, Jia-Yi Li, Gui-Dan Yang, Su-Li Zhang
Hui Yang, Gui-Dan Yang, Su-Li Zhang, Department of Neonatology, Hainan Women and Children's Medical Center, Haikou 570100, Hainan Province, China
Shuang-Zhu Lin, Shi-Hui Guan, Diagnosis and Treatment Center for Children, The First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China
Wan-Qi Wang, Jia-Yi Li, Changchun University of Chinese Medicine, Changchun 130000, Jilin Province, China
Author contributions: Yang H and Lin SZ collected and analyzed all clinical data and wrote the manuscript; Guan SH participated in collation of the literature and the chart research; Zhang SL was involved in the genetic diagnosis and treatment of the patients; Lin SZ, Wang WQ, Li JY and Yang GD substantially participated in drafting and revising the manuscript for important intellectual content; All authors involved have read and approved the final manuscript.
Supported by the Hainan Province Clinical Medical Center, No. (2021)75 and (2021)276.
Informed consent statement: Informed consent has been obtained from the patient’s family for all information mentioned in this report.
Conflict-of-interest statement: All the authors of this article have stated that there is no conflict of interest and have signed the relevant documents.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Su-Li Zhang, MD, Doctor, Department of Neonatology, Hainan Women and Children's Medical Center, No. 15 Longkun South Road, Haikou 570100, Hainan Province, China. 18389454649@163.com
Received: April 13, 2022
Peer-review started: April 13, 2022
First decision: July 11, 2022
Revised: July 27, 2022
Accepted: September 14, 2022
Article in press: September 14, 2022
Published online: October 26, 2022
Core Tip

Core Tip: We report a Chinese female infant with neonatal cholestasis disorder, who was eventually diagnosed with arthrogryposis, renal dysfunction and cholestasis syndrome 1 by genetic analysis. Genetic testing revealed two new mutations (c.96+1G>C, c.242delT) in VPS33B, which are the causal genes. The patient was compound heterozygous, and her parents were both heterozygous. Our paper will expand the mutational spectrum of VPS33B.