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Two independent multi‐patient studies have identified a rare, potentially damaging coding variant in MGAT5B in autism spectrum disorder (ASD) cohorts (PMID:37961520, PMID:38519481). Both studies, which screened 435 individuals from 116 ASD families, detected the same missense variant, c.1177G>A (p.Asp393Asn), in a single proband without additional documented segregation among affected relatives. The genetic evidence is limited by the singular occurrence and the lack of extended familial co‑segregation data, although the recurrence across independent cohorts lends cautious support to a possible contributory role in ASD risk.
Functional assessments specific to MGAT5B in ASD remain sparse. While the gene was flagged during comprehensive genomic screening for neurodevelopmental disorders, current experimental studies have yet to deliver robust biochemical or model‐system data that elucidate a mechanistic link between MGAT5B perturbation and ASD phenotypes. Additional functional investigations are needed to confirm a pathogenic role. In summary, despite the detection of a recurring variant, the clinical utility of MGAT5B for diagnostic decision‑making in ASD is presently limited and should be integrated with broader genetic and clinical evaluations.
Gene–Disease AssociationLimitedA single de novo missense variant in MGAT5B (c.1177G>A (p.Asp393Asn)) was identified in ASD probands from two independent studies, with no additional familial segregation data ([PMID:37961520], [PMID:38519481]). Genetic EvidenceLimitedThe MGAT5B variant was detected in one proband across separate cohorts, providing limited genetic evidence despite being recurrent across studies. Functional EvidenceLimitedCurrent functional studies are sparse and do not yet yield conclusive mechanistic insights into the role of MGAT5B in ASD. |