Published online Jul 6, 2021. doi: 10.12998/wjcc.v9.i19.5226
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
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.
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.
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.