CSMD3 was initially proposed as an autism candidate gene based on the identification of de novo balanced translocations with breakpoints near this gene in two patients diagnosed with autistic disorder (Floris et al., 2008). Whole-genome sequencing of 32 Chinese ASD trios in Wu et al., 2018 identified a statistically significant enrichment in transmitted damaging missense variants in CSMD3 vs. non-transmitted damaging missense variants (6 transmitted vs. 1 non-transmitted, P-value 0.00049). De novo coding variants in this gene, including a damaging missense variant, have been identified in ASD probands (Iossifov et al., 2014; Takata et al., 2018; Satterstrom et al., 2020). Song et al., 2022 identified rare and potentially deleterious missense variants in CSMD3 in Chinese patients with neurodevelopmental disorders (NDDs), including ASD, intellectual disability, schizophrenia, and epileptic encephalopathy; in the same report, disruption of Csmd3 in mice resulted in NDD-related behaviors, abnormal neuronal developmental and cortical lamination, and abnormal dendritic arborization and spine organization in cortical neurons.
Molecular Function
Predicted to be involved in regulation of dendrite development. Predicted to be located in plasma membrane. Overexpression of CSMD3 in cultured hippocampal neurons has been shown to induce dendritic branching (Mizukami et al., 2012).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area
