Relevance to Autism

A missense mutation in the KDM5C gene was detected in a nondysmorphic patient with developmental delay and autism spectrum disorder (Adegbola et al., 2008).

Molecular Function

This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability.

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Model Summary

Kdm5c is associated with X-linked syndromic Claes-Jensen type intellectual developmental disorder. The hemizygous male mouse model shows complete ablation of the gene, while the heterozygous female shows a reduction of half of the level of expression, compared to sex-matched wildtypes. In the female mouse model this reduction results in differential expressed genes, some of which are also differentially expressed in the hemizygous male model, while others are uniquely differentially expressed in the female heterozygous model. The female heterozygous mice show increased foot shock sensitivity and decreased social approach. A double heterozygote mutant female mouse of Kdm5c and Kmt2a also shows decreased social approach, in addition to decreased contextual memory in the fear conditioning paradigm and decreased social dominance in the tube test of social dominance.

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