Journal
EXPERIMENTAL AND THERAPEUTIC MEDICINE
Volume 21, Issue 2, Pages -Publisher
SPANDIDOS PUBL LTD
DOI: 10.3892/etm.2020.9536
Keywords
limb-girdle muscular dystrophy type 2A; calpain-3 gene; variant; compound heterozygous variants; whole-exome sequencing
Categories
Funding
- National Natural Science Foundation of China [81771589]
- Key Project of Tianjin Health Care Professionals [16KG166]
- Program of Tianjin Science and Technology Plan [18ZXDBSY00170]
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This study analyzed pathogenic CAPN3 gene variants in two Chinese families affected by LGMD2A, indicating that the compound heterogeneous variants of the CAPN3 gene were likely responsible for the disease in these families.
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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