CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

ABSTRACT: Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1^+/- mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals). We analyze brain CUX1 expression and susceptibility to epilepsy in Cux1^+/- mice. We describe 34 individuals, from which 30 were unrelated, with 26 different null and four missense variants. The leading symptoms were mild to moderate delayed speech and motor development and borderline to moderate intellectual disability. Additional symptoms were muscular hypoton

SUBMITTER: Oppermann H 

PROVIDER: S-EPMC10620399 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature