A number of de novo variants in the CSMD2 gene, including a de novo loss-of-function variant and four de novo missense variants, have been identified in ASD probands from the Simons Simplex Collection, the SPARK cohort, the MSSNG cohort, a Chinese ASD cohort, and a Pakistani ASD cohort (Iossifov et al., 2014; Zhou et al., 2022; Yuan et al., 2023; Khan et al., 2024). A compound heterozygous mutation in the CSMD2 gene consisting of two inherited missense variants was reported in an ASD proband born to non-consanguineous parents (Tuncay et al., 2022). A de novo missense variant in this gene was also identified in an ADHD proband from a simplex family in Kim et al., 2017.
Molecular Function
The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Variants in this gene have been found to associate with adult ADHD (Lesch et al., 2008) and schizophrenia (Havik et al., 2011).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum diso
