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- W4312061469 abstract "The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep-intronic splice-altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy. He remained genetically unsolved after routine exonic detection approaches that only detected a novel heterozygous frameshift variant (c.407dup, p.Thr137Tyrfs*11) in DYSF exon 5. Via muscle-derived DYSF mRNA studies, we identified a novel deep-intronic DYSF variant in the other allele (c.1397 + 649C > T), which causing in-frame alterations in DYSF mRNA and protein structure and confirmed his genetic diagnosis of dysferlinopathy. Our study emphasizes the potential role of undetected deep-intronic splice-altering variants in monogenic diseases." @default.
- W4312061469 created "2023-01-04" @default.
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- W4312061469 date "2022-12-21" @default.
- W4312061469 modified "2023-09-26" @default.
- W4312061469 title "An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the <i>dysferlin</i> gene" @default.
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- W4312061469 doi "https://doi.org/10.1002/acn3.51716" @default.
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