Mutation screening of the peropsin gene, a retinal pigmentepithelium specific rhodopsin homolog, in patients with retinitispigmentosa and allied diseases

[摘要] Purpose: To investigate the peropsin gene (RRH), encoding aretinal pigment epithelium homolog of the rod-expressed opsin(rhodopsin), for the presence of pathogenic mutations causing retinitispigmentosa (RP) or other retinal degenerations.Methods: All seven exons composing the RRH open reading frame andthe immediate intron sequences were analyzed by direct nucleotidesequencing of 613 patients with forms of retinal degeneration.Results: One patient with retinitis punctata albescens was aheterozygote with the missense change Cys98Tyr (TGT>TAT, c.293G>A). This change affects the homologous residue that is the target of therhodopsin mutation Cys110Tyr, a reported cause of dominant RP.Unfortunately, none of the patient's relatives were available for asegregation analysis to determine if this change is unambiguouslyassociated with disease. No definite pathogenic mutation was found inany of the other 612 patients who were evaluated.Conclusions: The Cys98Tyr is a possible cause of retinitis punctataalbescens, although this conclusion is tentative because the change wasfound in only one patient. Our results indicate that the peropsin geneis not a common cause of RP or some related retinal degenerations, atleast in the set of patients we analyzed.

[学科分类] 生物化学/生物物理