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

doi:10.1007/s00439-024-02655-4

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Article

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

Human genetics - 1 Mar 2024

Herbst Charlotte, Bothe Viktoria, Wegler Meret, Axer-Schaefer Susanne, Audebert-Bellanger Séverine, Gecz Jozef, Cogne Benjamin, Feldman Hagit Baris, Horn Anselm H C, Hurst Anna C E, Kelly Melissa A, Kruer Michael C, Kurolap Alina, Laquerriere Annie, Li Megan, Mark Paul R, Morawski Markus, Nizon Mathilde, Pastinen Tomi, Polster Tilman, Saugier-Veber Pascale, SeSong Jang, Sticht Heinrich, Stieler Jens T, Thifffault Isabelle, van Eyk Clare L, Marcorelles Pascale, Vezain-Mouchard Myriam, Abou Jamra Rami, Oppermann Henry

Abstract excerpt

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...

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Identifiers

PMID: 38526744
DOI: 10.1007/s00439-024-02655-4
PMCID: PMC11043173

Genes

DOCK4
RAC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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