SNUPN deficiency causes splicing and mRNA expression dysregulation in primary dermal fibroblasts.

Our study identified an atypical form of muscular dystrophy in patients with a germline deficiency of SNURPORTIN-1 (SPN1), a key adaptor protein for the nuclear import of spliceosomal small nuclear ribonucleoproteins (snRNPs). Through transcriptomic analysis of primary dermal fibroblast mutants compared to control lines, we discovered dysregulation in splicing and mRNA expression, providing valuable insights into the molecular mechanisms underlying the pathogenesis of SPN1. Overall design: RNA samples extracted from 3 mutant and 2 control lines of primary dermal fibroblasts were subjected to deep transcriptome sequencing. Bioinformatics differential splicing and expression analyses were performed to reveal mis-splicing events and dysregulated genes, respectively.