GNGT2 – Refractive Error

GNGT2 has been identified as a candidate gene associated with refractive error in a large-scale whole exome sequencing study of 51,624 unrelated European adults (PMID:35022715). In this study, both missense and predicted loss‐of‐function variants were analyzed across 14 genomic regions, yielding 19 putative causal variants. Although GNGT2 was among the set of genes highlighted by the statistical association, there is currently no evidence of familial segregation or independent replication specific to this gene. The large cohort size lends weight to the association; however, the absence of detailed case-level data for GNGT2 limits the overall strength of the gene‑disease claim.

Genetic evidence for the association is primarily derived from population‐based analyses rather than targeted case studies, and no specific HGVS variant for GNGT2 has been reported in the context of refractive error. Furthermore, there are no direct functional studies that support a mechanistic link between GNGT2 and refractive error, leaving the underlying pathogenic mechanism uncharacterized. Additional segregation analyses and experimental validations will be essential to confirm the clinical utility of GNGT2 for diagnostic decision‑making. Key take‑home sentence: While current population‐based genetic data implicate GNGT2 in refractive error, its clinical diagnostic value awaits further segregation and functional validation.

References

• Human Molecular Genetics • 2022 • Whole exome sequence analysis in 51,624 participants identifies novel genes and variants associated with refractive error and myopi; PMID:35022715

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