Article
Functional Analyses in Patient-Derived Neurons Establish Pathogenicity for STXBP1 Splice Variant c.429+5G>A.
Human mutation - 1 Jan 2026
Korhorn Sylvia, Sharma Additya, Sprengers Jan J, Anand Shilpa, Ramautar Jennifer R, Linkenkaer-Hansen Klaus, Bruining Hilgo, Toonen Ruud F, Verhage Matthijs, Misra-Isrie Mala
Abstract excerpt
Pathogenic STXBP1 variants cause a broad spectrum of neurodevelopmental disorders. We investigated a patient with developmental delay but no seizures, carrying a heterozygous, predicted splice site variant, c.429+5G>A, initially classified as a variant of uncertain significance. Patient-derived neurons had normal morphology in vitro, but > 40% reduced MUNC18-1/STXBP1 protein and mRNA levels, comparable with two...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.