Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 21, 2022; 10(3): 1056-1066
Published online Jan 21, 2022. doi: 10.12998/wjcc.v10.i3.1056
Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports
Wen-Juan Wu, Su-Zhen Sun, Bao-Guang Li
Wen-Juan Wu, Su-Zhen Sun, Bao-Guang Li, Department of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, Shijiazhuang 050031, Hebei Province, China
Author contributions: Wu WJ conceived and coordinated the study, designed, performed, and analyzed the experiments, and wrote the paper; Sun SZ and Li BG carried out the data collection and analysis, and revised the paper; and all authors reviewed the results and approved the final version of the manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
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:
Corresponding author: Bao-Guang Li, MD, Doctor, Department of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, No. 133 Jianhua Nan street, Shijiazhuang 050031, Hebei Province, China.
Received: June 21, 2021
Peer-review started: June 21, 2021
First decision: July 26, 2021
Revised: August 20, 2021
Accepted: December 22, 2021
Article in press: December 22, 2021
Published online: January 21, 2022
Core Tip

Core Tip: Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2) gene can lead to impaired glycosylation of α-dystroglycan, which, in turn, causes congenital muscular dystrophy (CMD). The clinical phenotypes of CMD are broad, and there are only a few reports of CMD worldwide. This paper introduces two cases of congenital dystrophy caused by mutation of the B3GALNT2 gene. Briefly, 19 children with B3GALNT2 gene mutation published in the world were reviewed. Clinical characteristics and mutation genotypes of 21 children were analyzed, and the pathogenesis is discussed.