TSPAN11 and Intellectual Disability

Evidence for the association between TSPAN11 (HGNC:30795) and intellectual disability (MONDO_0001071) arises from candidate gene analyses in patients exhibiting neurodevelopmental disorders. A cryptic heterozygous 4.7 Mb deletion detected by array comparative genomic hybridization in a patient with intellectual disability nominated several candidate genes, including TSPAN11, with supporting data from a DECIPHER CNV review (PMID:37563198). Although no recurrent point mutations in TSPAN11 have been reported and familial segregation data are currently lacking, the observation from multi‐patient studies provides preliminary genetic evidence that warrants further validation.

Functional assessments further contribute to the proposed association, with in silico modifier analyses suggesting that TSPAN11 may influence the phenotypic severity of related conditions. In a study evaluating a pathogenic CD151 splicing mutation, TSPAN11 emerged as a potential modifier gene, hinting at a biological role that could extend to neurodevelopmental impairment (PMID:35707593). Overall, while the current genetic and functional evidence remains limited, the convergent findings outline a framework for further research and support the clinical utility of considering TSPAN11 in diagnostic decision‑making for intellectual disability.

References

• Scientific reports • 2023 • A cryptic microdeletion implicates new candidate loci for intellectual disability and Kallmann syndrome PMID:37563198
• Molecular syndromology • 2022 • New Report of a Different Clinical Presentation of CD151 Splicing Mutation: Could TSPAN11 be Considered as a Potential Modifier Gene for CD151? PMID:35707593

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