G.P.14.02 MLPA analysis of the CAPN3 gene detects large deletions in LGMD2A patients (original) (raw)

Limb Girdle Muscular Dystrophy type 2A (LGMD2A) is primarily caused by mutations in the CAPN3 gene. While many mutations identified are point mutations, this research identifies large multi-exonic deletions using Multiplex Ligation Probe dependent Amplification (MLPA). Analysis of 43 Dutch patients revealed that 7% had significant deletions in CAPN3, with associated reductions in calpain-3 protein levels. Furthermore, the study examined nonsense-mediated mRNA decay (NMD) affecting CAPN3 and DMD transcripts, demonstrating variable NMD performance depending on the gene.