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Significance Due to its severity and early onset, X-linked retinitis pigmentosa (XLRP) is a particularly devastating form of retinal degeneration. Most males with XLRP come to medical attention before the age of 20. Approximately 15% of all RP is X-linked, and more than 70% of these cases are caused by mutations in theRPGR gene. Currently, there is no known assay to evaluate the nature of RPGR missense variants functionally. In this study, we developed an in vitro assay to examine how different missense variations inRPGR cause XLRP. Our assay is based on the RPGR protein interaction network. Our method provides a cost-effective test for RPGR functional mutation analysis.

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP