Variants of CAPN3 cause limb‑girdle muscular dystrophy type 2A in two Chinese families

Zheng,Jie; Xu,Xiaowei; Zhang,Xinjie; Wang,Xuetao; Shu,Jianbo; Cai,Chunquan

doi:10.3892/etm.2020.9536

Variants of CAPN3 cause limb‑girdle muscular dystrophy type 2A in two Chinese families

Authors:
- Jie Zheng
- Xiaowei Xu
- Xinjie Zhang
- Xuetao Wang
- Jianbo Shu
- Chunquan Cai
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Affiliations: Graduate College, Tianjin Medical University, Tianjin 300070, P.R. China, Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin 300134, P.R. China
Published online on: November 27, 2020 https://doi.org/10.3892/etm.2020.9536
Article Number: 104
Copyright: © Zheng et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Limb‑girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases that are characterized by progressive muscle weakness. LGMD type 2A (LGMD2A), caused by variants in the calpain‑3 (CAPN3) gene, is the most prevalent type. The present study aimed to analyze pathogenic CAPN3 gene variants in two pedigrees affected by LGMD2A. Each family contains three patients who are siblings and sought genetic counseling. Genomic DNA was extracted from the peripheral blood samples collected from the probands and family members and whole‑exome sequencing (WES) was used to detect the pathogenic genes in the probands. Suspected variants were subsequently validated by Sanger sequencing. In family 1, WES revealed that the proband carried the compound heterogeneous variants c.1194‑9A>G and c.1437C>T (p.Ser479=) in CAPN3 (NM_000070.2). In family 2, WES identified that the proband carried the compound heterogeneous variants c.632+4A>G and c.1468C>T (p.Arg490Trp) in CAPN3 (NM_000070.2). In conclusion, the present study indicated that the compound heterogeneous variants of the CAPN3 gene were most likely responsible for LGMD2A in the two Chinese families.

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