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In a single multiplex family, a 350 kb microduplication at 20q11.21 encompassing TM9SF4 was identified by array‐CGH and found in the proband with ASD and bipolar disorder type I, her twin brothers with ASD and intellectual disability, and her father and sister with bipolar disorder type II and subthreshold autistic traits, but absent in the unaffected mother, indicating segregation with autistic phenotypes and mood disorders across three generations (PMID:38076678). All five carriers exhibited autistic behavior (HP:0000729) to varying degrees, supporting a dosage‐sensitive effect of TM9SF4 in ASD etiology. No additional unrelated cases or functional assays have yet been reported.
Gene–Disease AssociationLimitedSingle multiplex family with TM9SF4‐containing microduplication segregating with ASD/autistic traits in 5 individuals (including 4 additional relatives) (PMID:38076678). Genetic EvidenceLimitedOne family, 5 affected carriers of the 20q11.21 duplication involving TM9SF4, consistent with autosomal dominant segregation (PMID:38076678). Functional EvidenceNo evidenceNo functional studies have yet assessed the impact of TM9SF4 dosage on neurodevelopment or ASD‐related pathways. |