A De Novo Loss-of-Function <i>NCKAP1</i> Variant in a Boy with Neurodevelopmental Delay and Congenital Heart Defect.

ABSTRACT: Background: Neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), intellectual disability (ID), and global developmental delay (GDD), frequently have underlying genetic causes. NCKAP1, a gene essential for actin cytoskeleton remodeling and neuronal development, has recently gained recognition as a promising candidate gene in NDDs. While not yet linked to a defined Mendelian disorder, damaging NCKAP1 variants have been identified in individuals with NDDs. NCKAP1 is also expressed in cardiac tissue, with emerging evidence supporting its potential involvement in cardiac development. Here, we present a case of a patient with neurodevelopmental delay and congenital heart disease (CHD) harboring a novel damaging NCKAP1 variant. Methods

SUBMITTER: Zhang W 

PROVIDER: S-EPMC12731551 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature