Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

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Abstract

The RPGR (retinitis pigmentosa GTPase regulator) gene for RP3, the most frequent genetic subtype of X-linked retinitis pigmentosa (XLRP), has been shown to be mutated in 10%-15% of European XLRP patients. We have examined the RPGR gene for mutations in a cohort of 80 affected males from apparently unrelated XLRP families, by direct sequencing of the PCR-amplified products from the genomic DNA. Fifteen different putative disease-causing mutations were identified in 17 of the 80 families; these include four nonsense mutations, one missense mutation, six microdeletions, and four intronic- sequence substitutions resulting in splice defects. Most of the mutations were detected in the conserved N-terminal region of the RPGR protein, containing tandem repeats homologous to those present in the RCC-1 protein (a guanine nucleotide-exchange factor for Ran-GTPase). Our results indicate that mutations either in as yet uncharacterized sequences of the RPGR gene or in another gene located in its vicinity may be a more frequent cause of XLRP. The reported studies will be beneficial in establishing genotype-phenotype correlations and should lead to further investigations seeking to understand the mechanism of disease pathogenesis.

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Buraczynska, M., Wu, W., Fujita, R., Buraczynska, K., Phelps, E., Andréasson, S., … Swaroop, A. (1997). Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. American Journal of Human Genetics, 61(6), 1287–1292. https://doi.org/10.1086/301646

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