Yang H, Lin SZ, Guan SH, Wang WQ, Li JY, Yang GD, Zhang SL. Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report. World J Clin Cases 2022; 10(30): 11016-11022 [PMID: 36338198 DOI: 10.12998/wjcc.v10.i30.11016]
Corresponding Author of This Article
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
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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/
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 bythe 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 Processing time: 190 Days and 12.5 Hours
Abstract
BACKGROUND
The VPS33B (OMIM: 608552) gene is located on chromosome 15q26.1. We found a female infant with autosomal recessive arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) caused by mutation in VPS33B. The child was diagnosed with ARCS1 (OMIM: 208085) after the whole exome sequencing revealed two heterozygous mutations (c.96+1G>C, c.242delT) in the VPS33B gene.
CASE SUMMARY
We report a Chinese female infant with neonatal cholestasis disorder, who was eventually diagnosed with ARCS1 by genetic analysis. Genetic testing revealed two new mutations (c.96+1G>C and c.242delT) in VPS33B, which is the causal gene. The patient was compound heterozygous, and her parents were both heterozygous.
CONCLUSION
This study extends the mutational spectrum of the VPS33B gene to provide a molecular basis for the etiological diagnosis of ARCS1 and for genetic counseling of the family.
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.
