Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 6, 2021; 9(19): 5226-5231
Published online Jul 6, 2021. doi: 10.12998/wjcc.v9.i19.5226
Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report
Mi Yang, Ru-Xin Xing
Mi Yang, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China
Ru-Xin Xing, Department of Neurosurgery, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China
Author contributions: Yang M collected the clinical data and drafted the manuscript; Xing RX revised the manuscript for intellectual content; All authors read and approved the final manuscript.
Supported by the Medical and Health Science and Technology Program of Zhejiang Province, No. 2018273034.
Informed consent statement: Written informed consent was obtained from each participant for publication of this case report.
Conflict-of-interest statement: The authors declare that they have no competing interests.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Mi Yang, MD, PhD, Doctor, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, No. 1 Shangcheng Avenue, Yiwu 322000, Zhejiang Province, China. mier999@zju.edu.cn
Received: February 9, 2021
Peer-review started: February 9, 2021
First decision: February 28, 2021
Revised: March 8, 2021
Accepted: April 12, 2021
Article in press: April 12, 2021
Published online: July 6, 2021
Processing time: 134 Days and 23.4 Hours
Core Tip

Core Tip: A homozygous deletion, c. 1114-1116del (p.V372del), was identified in the exon 8 of the CRPPA gene in a Chinese family, which was diagnosed as congenital muscular dystrophy. Mutations in the CRPPA gene are recognized as causative factors of dystroglycanopathies, a subtype of congenital muscular dystrophy with defects in glycosylation. Findings in this study expanded the clinical and mutational spectrum of congenital muscular dystrophy patients with the CRPPA gene.