Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

ABSTRACT: Alterations in RNA-splicing are a molecular hallmark of several neurological diseases, including muscular dystrophies, where mutations in genes involved in RNA metabolism or characterized by alterations in RNA splicing have been described. Here, we present five patients from two unrelated families with a limb-girdle muscular dystrophy (LGMD) phenotype carrying a biallelic variant in SNUPN gene. Snurportin-1, the protein encoded by SNUPN, plays an important role in the nuclear transport of small nuclear ribonucleoproteins (snRNPs), essential components of the spliceosome. We combine deep phenotyping, including clinical features, histopathology and muscle MRI, with functional studies in patient-derived cells and muscle biopsies to demonstrate that variants in SNUPN are the cause of a new typ

SUBMITTER: Iruzubieta P 

PROVIDER: S-EPMC11292911 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature