Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.

ABSTRACT: Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong genetic component. The genetic architecture is complex, consisting of a combination of common low-risk and more penetrant rare variants. Voltage-gated calcium channels (VGCCs or Ca_v) genes have been implicated as high-confidence susceptibility genes for ASD, in accordance with the relevant role of calcium signaling in neuronal function. In order to further investigate the involvement of VGCCs rare variants in ASD susceptibility, we performed whole genome sequencing analysis in a cohort of 105 families, composed of 124 ASD individuals, 210 parents and 58 unaffected siblings. We identified 53 rare inherited damaging variants in Ca_v genes, including genes coding for the princ

SUBMITTER: Viggiano M 

PROVIDER: S-EPMC8957782 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature