CSMD1 – Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic component. A two‐stage genome‐wide association study in East Asian cohorts (166 ASD families, n = 500 discovery; 205 Japanese cases; 418 Han Chinese trios) identified suggestive association at a locus encompassing CSMD1 PMID:26314684. In a Han Chinese CNV analysis of 343 trios, 203 sporadic cases, and 988 controls, rare large CNVs (>1 Mb) including CSMD1 were found in 31 ASD patients versus controls PMID:28281572.

Whole‐exome sequencing of 100 individuals from 40 extended ASD families uncovered rare, predicted damaging CSMD1 variants in multiple pedigrees, though detailed segregation data were limited PMID:24410847. An exploratory SKAT‐O analysis in 36 children (ASD versus other developmental disorders) further nominated CSMD1 among seven genes differentiating ASD phenotypes in a small cohort PMID:38421723. To date, no single CSMD1 coding variant has been consistently segregated in ASD families, and no ASD‐specific functional assays have been reported. Overall, current genetic and experimental data provide limited support for CSMD1 as an ASD risk gene, warranting larger replication studies with rigorous segregation and functional validation.

References

• Autism research • 2016 • Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations. PMID:26314684
• Scientific reports • 2017 • Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. PMID:28281572
• Molecular autism • 2014 • Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. PMID:24410847
• Biomolecules & biomedicine • 2024 • Exploratory genetic analysis in children with autism spectrum disorder and other developmental disorders using whole exome sequencing. PMID:38421723

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