OR2T35 – Xeroderma Pigmentosum Group C

The current evidence supporting an association between OR2T35 (HGNC:31257) and xeroderma pigmentosum group C (MONDO_0010211) is limited. In a recent case study, whole exome sequencing of a 17‑year‑old female Korean patient with a milder XP-C phenotype identified a candidate frameshift variant in OR2T35 (rs72452004) concurrent with established pathogenic changes in XPC (PMID:37109656). However, this solitary observation lacks replication, robust segregation evidence among affected relatives, and dedicated functional validation. The absence of a formal HGVS-formatted variant for OR2T35 further complicates definitive interpretation of its role in disease.

Functional studies performed in the same investigation focused primarily on the XPC gene, with only computational predictions available for OR2T35, and no direct experimental assays have been reported to demonstrate an effect on protein function or cellular pathways involved in DNA repair. While the possibility of a genetic modifier cannot be entirely excluded, additional investigations including segregation analysis, independent replication, and mechanistic studies are required to support a clinically actionable gene–disease relationship. Key take‑home sentence: Current findings do not provide sufficient evidence for the clinical utility of OR2T35 variants in the diagnostic assessment of xeroderma pigmentosum group C.

References

• Medicina (Kaunas, Lithuania) • 2023 • Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C. PMID:37109656

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