Relevance to Autism

Two rare and potentially damaging de novo missense variants in the CAMTA2 gene have been identified in ASD probands from the SPARK cohort (Zhou et al., 2022), while three protein-truncating variants in this gene were observed in ASD probands, compared to none in controls, from a case-control cohort (Trost et al., 2022). Transmission and de novo association (TADA) analysis of whole-exome and whole-genome sequencing data from the Autism Sequencing Consortium, the Simons Simplex Collection, the MSSNG cohort, and the SPARK cohort in Trost et al., 2022 identified CAMTA2 as an ASD-associated gene with a false discovery rate (FDR) < 0.1.

Molecular Function

The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. A homozygous 5'UTR variant that was 6 bases upstream of the translation start site of the CAMTA2 gene was found to segregate with disease in a consanguineous extended family with five affected individuals presenting with syndromic tremulous dystonia, spasticity, and white matter disease; transfection of wild type and mutant 5'UTR-linked fluorescent reporters showed a significant reduction in the protein fluorescent activity, implying translation inhibition (Monies et al., 2017).

External Links

References