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

Monika Buraczynska, Weiping Wu, Ricardo Fujita, Kinga Buraczynska, Ellen Phelps, Sten Andréasson, Jean Bennett, David G. Birch, Gerald A. Fishman, Dennis R. Hoffman, George Inana, Samuel G. Jacobson, Maria A. Musarella, Paul A. Sieving, Anand Swaroop

Research output: Contribution to journalArticlepeer-review

84 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1287-1292
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number6
StatePublished - Dec 1997
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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