ArticleNeurology. Genetics2025
RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A.
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Correction of aberrant splicing caused by intronic CAPN3 pathogenic variants using RNA-targeted therapeutic strategies in limb-girdle muscular dystrophy type R1.Orphanet journal of rare diseases · 2026Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Biallelic pathogenic variants in the Methods: Total RNA was obtained from the skeletal muscle samples of patients with LGMDR1/2A. Reverse-transcription PCR, DNA electrophoresis, agarose gel extraction, pMD18-T vector cloning, and sequencing were conducted. Results: Transcriptional analysis revealed that three of these 5 variants (c.1193 + 30G > A, c.1194-9A > G, and c.1354 + 5G > A) induced CAPN3 pre-mRNA mis-splicing through recognition of cryptic donor or acceptor splice sites. In addition, the c.2185-14T > G variant in the polypyrimidine tract of intron 20 caused the pseudoexonization of the entire intron 20 while the c.946-29T > C variant in the branch point sequence (BPS) of intron 6 led to the retention of the last 390 bp of intron 6 through disruption of original BPS and recognition of cryptic BPS and acceptor splice site. All of these noncanonical splicing variants triggering pre-mRNA mis-splicing were predicted to introduce premature termination codons. Western blotting showed deficiency of full-length (94-kDa) and 60-kDa autolytic fragments of the calpain 3 protein in skeletal muscle samples from 4 probands. Discussion: Our study broadens the spectrum of aberrant mRNA splicing caused by intronic variants in calpainopathy.
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Registered trials
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