Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene

Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene

“…For RPGR, this high penetrance in males and females cannot be accounted for by skewed inactivation of the X-chromosome, and seems to be most common with truncating mutations, particularly in exon ORF15. 3,4 In this study, we have shown that X-linked dominant RP can also be the result of a missense mutation in exon 5 of RPGR.…”

“…This feature was noted before either symptoms or signs of retinal degeneration, and may be the earliest and most reliable guide to the affected female status in Xlinked dominant RP, its presence implying a mutation in the RPGR gene. 2,3 Heterozygous females had bone spiculation in the mid-peripheral retina. No tapetal reflex was seen and the macula was grossly normal.…”

Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing

“…Five unique ORF15 mutations were detected, including four novel mutations and one previously reported mutation. 18 Notably, the four mutations first described in this study are all frameshift mutations (c.3146delA, c.2485_2488delGAAG, c.2892_2893delGG, and c.2233_2236delAGAG). All of the causative mutations were segregated in the family.…”

Inherited metabolic disorders involving the eye: a clinico-biochemical perspective

“…The known genes can be classified into metabolic groups according to the encoded protein: visual transduction, visual cycle, transcription factors, structural proteins, spliceosome complex, and cellular traffic, indicating the high level of specialisation of photoreceptors and of the retinal pigment epithelium. 36 Some genes are specific to the retina or to photoreceptors (such as members of the phototransduction pathway, structural and transport proteins in photoreceptors, retina-specific transcription factors, and vitamin A metabolism); others have a more ubiquitous expression and function (for example, mRNA splicing); several genes encode proteins whose function in the retina is not well understood.…”