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

Abstract excerpt

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 the RPGR gene. Currently, there is no known assay to evaluate the nature of RPGR missense variants...

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