Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

ABSTRACT: Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation or formation of neurites are associated with various psychiatric and neurodevelopmental disorders. Dynamic changes in the cytoskeleton are essential for this process, which is, inter alia, controlled by the dedicator of cytokinesis 4 (DOCK4) through the activation of RAC1. Here, we clinically describe 7 individuals (6 males and one female) with variants in DOCK4 and overlapping phenotype of mild to severe global developmental delay. Additional symptoms include coordination or gait abnormalities, microcephaly, nonspecific brain malformations, hypotonia and seizures. Four individuals carry missense variants (three of them detected de novo) and three individuals carry null

SUBMITTER: Herbst C 

PROVIDER: S-EPMC11043173 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature