NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

ABSTRACT: NCKAP1/NAP1 regulates neuronal cytoskeletal dynamics and is essential for neuronal differentiation in the developing brain. Deleterious variants in NCKAP1 have been identified in individuals with autism spectrum disorder (ASD) and intellectual disability; however, its clinical significance remains unclear. To determine its significance, we assemble genotype and phenotype data for 21 affected individuals from 20 unrelated families with predicted deleterious variants in NCKAP1. This includes 16 individuals with de novo (n = 8), transmitted (n = 6), or inheritance unknown (n = 2) truncating variants, two individuals with structural variants, and three with potentially disruptive de novo missense variants. We report a de novo and ultra-rare deleterious variant burden of NCKAP1 in individuals w

SUBMITTER: Guo H 

PROVIDER: S-EPMC7674997 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature