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A recent case report (PMID:25893121) documented a 29‑month‑old male diagnosed with autism who harbored a 1.3 Mb interstitial duplication at 7p22.1. This duplicated region spans 14 OMIM‐annotated genes, including FBXL18, and the patient presented with neurodevelopmental anomalies such as brachycephaly (HP:0000248), cryptorchidism (HP:0000028), protruding ear (HP:0000411), delayed speech and language development (HP:0000750), and reduced eye contact (HP:0000817). The report constitutes the sole instance linking FBXL18 within this CNV to an autism phenotype, without additional segregation or replication data from unrelated families (PMID:25893121).
While the genetic evidence suggests a potential involvement of FBXL18 through its inclusion in a pathogenic duplication, no functional studies have directly evaluated its role in the autism spectrum disorder. In summary, the association between FBXL18 and autism remains limited, underscoring the need for further investigation before it can be broadly integrated into diagnostic decision‑making or therapeutic strategies.
Gene–Disease AssociationLimitedA single proband with a 1.3 Mb duplication encompassing FBXL18 among 13 other genes presenting autism features has been reported (PMID:25893121). Segregation data and replication in unrelated cases are lacking. Genetic EvidenceLimitedThe genetic evidence is confined to one case report (PMID:25893121) without additional supporting data from family segregation or multiple probands. Functional EvidenceLimitedNo functional studies have directly explored the role of FBXL18 in autism-related biological pathways, resulting in limited mechanistic insights. |