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Recent case reports and multi‐patient studies have implicated a 7p22.1 microduplication – encompassing the GRID2IP gene among 13 other genes – in patients with autism (PMID:25893121). In the reported case, a 29‑month‑old male with autism presented with clinical findings including brachycephaly, prominent ears, cryptorchidism, delayed speech and language development, and reduced eye contact. However, the duplication does not isolate GRID2IP as the sole contributor, because the reported CNV involves multiple candidate genes and lacks robust segregation data. Consequently, genetic evidence is derived from a limited number of probands, with minimal additional affected relative segregation and no isolated variant‐level identification for GRID2IP.
Preliminary functional assessments in related neurodevelopmental contexts suggest that disruptions in actin‐regulatory pathways may be relevant, but no GRID2IP‑specific functional assays have been reported to date. In summary, while GRID2IP is recurrently observed within duplications in autism, its isolated contribution remains uncertain. Key take‑home message: The current evidence supports a limited clinical validity for the association between GRID2IP and autism, warranting further gene‑specific studies to clarify its role in neurodevelopmental pathology.
Gene–Disease AssociationLimitedThe association is based on duplication events reported in a single multi‐patient study (PMID:25893121) where GRID2IP is one of several genes involved, with minimal segregation and lack of isolated variant-level evidence. Genetic EvidenceLimitedOnly one proband and additional cases from larger duplications contribute to the genetic evidence, without GRID2IP-specific variants or detailed familial segregation data (PMID:25893121). Functional EvidenceLimitedWhile initial functional assessments in neurodevelopmental pathways suggest potential involvement, there are no GRID2IP-specific assays to firmly establish its mechanistic role. |