Yang M, Xing RX. Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report. World J Clin Cases 2021; 9(19): 5226-5231 [PMID: 34307571 DOI: 10.12998/wjcc.v9.i19.5226]
Corresponding Author of This Article
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
Research Domain of This Article
Clinical Neurology
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/
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 bythe 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
Abstract
BACKGROUND
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Mutations in the CRPPA gene (encoding CDPLribitol pyrophosphorylase A) are recognized as causative factors of dystroglycanopathies, a subtype of CMD with defects in glycosylation.
CASE SUMMARY
The present study examined a Chinese family, whose proband presented mainly with muscle weakness in both lower limbs but without brain and eye symptoms. In this family, a homozygous deletion, c. 1114-1116del (p.V372del), was identified in exon 8 of CRPPA in the proband, while a heterozygous deletion was identified in the proband’s father and mother, who lacked symptoms. A mild dystroglycanopathy of CMD was diagnosed.
CONCLUSION
The findings of this study expanded the clinical and mutational spectrum of patients with CMD associated with CRPPA mutations.
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.
