DOCK3-Associated Neurodevelopmental Disorder-Clinical Features and Molecular Basis.

ABSTRACT: The protein product of DOCK3 is highly expressed in neurons and has a role in cell adhesion and neuronal outgrowth through its interaction with the actin cytoskeleton and key cell signaling molecules. The DOCK3 protein is essential for normal cell growth and migration. Biallelic variants in DOCK3 associated with complete or partial loss of function of the gene were recently reported in six patients with intellectual disability and muscle hypotonia. Only one of the reported patients had congenital malformations outside of the CNS. Further studies are necessary to better determine the prevalence of DOCK3-associated neurodevelopmental disorders and the frequency of non-CNS clinical manifestations in these patients. Since deficiency of the DOCK3 protein product is now an e

SUBMITTER: Alexander MS 

PROVIDER: S-EPMC10606569 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature