Relevance to Autism

A total of two de novo loss-of-function variants in the DOCK8 gene have been observed in ASD probands from the Autism Sequencing Consortium and the Autism Clinical and Genetic Resources in China (ACGC) cohort (De Rubeis et al., 2014; Wang et al., 2016). The 9p24.3 locus, which contains the DOCK8 gene, overlaps with linkage regions identified in large autism extended pedigrees (Allen-Brady et al., 2009; Coon et al., 2010). Two unrelated patients with intellectual disability and additional phenotypes were found to carry heterozygous disruptions of the DOCK8 gene (one by deletion, the another by translocation breakpoint) in Griggs et al., 2008.

Molecular Function

This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome.

External Links

References