M. Macek

Novel truncating SF1 gene variant in a family with mild neurodevelopmental disorder: expanding the phenotype of SF1-related spliceosomopathy spectrum

The SF1 gene encodes the splicing factor 1, a part of the splicing machinery. Recently, loss-of-function (LoF) variants in the SF1 gene have been suggested as a molecular cause of a neurodevelopmental spliceosomopathy. We report a unique familial case of a novel truncating variant in a single Cze...