Two de novo missense variants with CADD scores > 30 were identified in the ADGRB1 gene in a Korean ASD proband in Kim et al., 2024; this gene was subsequently classified as an ASD candidate gene in males following a combined TADA analysis consisting of the Korean ASD cohort described in Kim et al., 2024 in addition to the Simons Simplex Collection and the SPARK cohort. A de novo loss-of-function variant in ADGRB1 was identified in an SSC proband, and two additional de novo missense variants with CADD scores > 30 were identified in this gene in ASD probands from the Autism Sequencing Consortium and SPARK (Iossifov et al., 2014; Satterstrom et al., 2020; Zhou et al., 2022). De novo missense variants in ADGRB1 have also been identified in ASD probands from Japanese and Chinese cohorts (Takata et al., 2018; Yuan et al., 2023; Wang et al., 2023).
Molecular Function
Inhibits MDM2-mediated ubiquitination and degradation of DLG4/PSD95, promoting DLG4 stability and regulating synaptic plasticity. Required for the formation of dendritic spines by ensuring the correct localization of PARD3 and TIAM1.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
