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The association between SYAP1 and autism spectrum disorder is supported by evidence from large-scale X‑chromosome-wide association studies. Two independent studies, each analyzing thousands of individuals (PMID:39108515, PMID:39706197), have identified significant association signals for SYAP1 among a panel of 17 genes. These studies employed robust statistical methods and Bonferroni correction to detect variants implicated in ASD, underscoring the strength of the genetic association.
The overall clinical validity is rated as Strong. The multiple cohorts included in these studies, with a combined sample size exceeding 15,000 individuals, provide compelling statistical evidence. Although individual variant details in standard HGVS format were not provided, the demonstration of association in large patient groups enhances confidence in this gene–disease link.
Genetic evidence further supports the association by identifying SYAP1 as one of the 17 genes with statistically significant association signals in an X‑chromosome scan. While detailed variant-level reports (e.g., specific HGVS strings) for SYAP1 were not provided in the supplied data, the replication of association across independent cohorts contributes to a strong assessment of the genetic data.
Functional evidence remains limited at this stage. Although the header for functional assessment studies was noted in the evidence, detailed experimental studies such as expression analyses, cellular models, or rescue experiments were not described. As a result, the current experimental support for a mechanistic role of SYAP1 in ASD is minimal.
There is no data on familial segregation regarding additional affected relatives carrying segregating variants for SYAP1. Nonetheless, the aggregate genetic findings across large-scale studies provide a coherent narrative that aligns with the observed male bias in ASD and the emerging role of X‑linked variation.
In summary, the strong genetic association seen in well‐powered X‑chromosome analyses, despite limited functional studies, supports a strong gene–disease assertion for SYAP1 in autism spectrum disorder. Further functional and mechanistic studies are warranted to complement the robust genetic findings.
Key Take‑home: SYAP1 exhibits a strong genetic association with autism spectrum disorder based on large-scale, statistically robust studies, supporting its potential clinical utility for diagnostic decision‑making and future therapeutic development.
Gene–Disease AssociationStrongThe association is based on two large-scale X-chromosome-wide studies analyzing 6,873 ASD cases and 8,981 controls (PMID:39108515, PMID:39706197), providing statistically robust evidence despite the absence of detailed variant-level data. Genetic EvidenceStrongSYAP1 was one of 17 genes with significant association signals identified in multi-patient studies. Although specific HGVS variants were not provided, replication across large cohorts reinforces its genetic relevance in ASD. Functional EvidenceLimitedWhile the evidence includes a header for functional assessments, detailed experimental studies (e.g., expression analyses, model systems) are currently lacking, limiting the experimental support for pathogenicity. |