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MED15 – Autism Spectrum Disorder

Recent multi‐patient studies have identified MED15 (HGNC:14248) as a candidate gene associated with autism spectrum disorder (MONDO_0005258). In a transcriptome‑wide association study involving 5,305 ASD cases and an equal number of controls, MED15 was among five genes with significant associations (PMID:30561910). In parallel, a study of atypical nested 22q11.2 duplications in six families reported 13 individuals presenting with neurodevelopmental phenotypes, including delayed speech and language development (HP:0000750) and ASD, with MED15 residing in the implicated genomic region (PMID:30614210). However, detailed variant‐level data for MED15 was not provided, and the candidate status arises from gene‐level association rather than definitive causative variants. Segregation data from familial duplications is modest, with affected relatives observed in these families, but the overall evidence remains limited by the lack of robust replication and functional validation.

In summary, while independent genetic studies support a potential association between MED15 and autism spectrum disorder, the limited segregation data and absence of direct functional assays mean that the current evidence is insufficient for a definitive clinical conclusion. Further experimental studies and detailed variant characterization are needed to fully clarify the role of MED15 in ASD. Key take‐home message: MED15 is a promising candidate gene for ASD that may aid diagnostic decision‑making when integrated with additional genetic and functional evidence.

References

  • Autism Research • 2019 • Integrative analysis of transcriptome‑wide association study and mRNA expression profiles identifies candidate genes associated with autism spectrum disorders PMID:30561910
  • Molecular Genetics & Genomic Medicine • 2019 • Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance PMID:30614210

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Genetic association derives from a TWAS involving 5,305 ASD cases (PMID:30561910) and familial duplications observed in 13 individuals from 6 families (PMID:30614210); however, limited segregation and absence of detailed variant and functional data constrain the overall claim.

Genetic Evidence

Limited

Evidence includes gene‐level associations from transcriptome data and CNV duplication studies implicating MED15 in ASD, but lacks precise variant characterization.

Functional Evidence

Limited

No direct functional assays or experimental models have been reported to support MED15 pathogenicity in ASD.