A de novo missense variant that was predicted to be damaging (p.Arg351Thr) was observed in the CACNA2D1 gene in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014); functional characterization of this variant in Risher et al., 2018 demonstrated that CACNA2D1-p.Arg351Thr failed to rescue defects in synaptogenesis in transfected organotypic slices from Cacna2d1-knockout mice. Genomic aberrations affecting the CACNA2D1 gene had previously been observed in three unrelated patients with intellectual disability and epilepsy (Vergult et al., 2015).
Molecular Function
The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
