Mutations of RPGR in X-linked retinitis pigmentosa (RP3)

Hum Mutat. 2002 May;19(5):486-500. doi: 10.1002/humu.10057.


Mutations in RPGR, retinitis pigmentosa GTPase regulator, are associated with RP3 type of X-linked retinitis pigmentosa, a severe, non-syndromic form of retinal degeneration. In the majority of subjects RPGR mutations are associated with a typical rod-cone degeneration, but in a small number, cone-rod dystrophy, deafness, and abnormalities in respiratory cilia have been noted. Alternative splicing of RPGR is complex in all species examined. In RP3 patients, mutations have been found in exons 1-14 and ORF15, thus delineating a transcript necessary for normal retinal function in humans. The great majority of mutations are predicted to result in premature termination of translation. These mutations are scattered over exons 1-14 and ORF15, while most missense mutations occur in a domain with homology to the protein RCC1, encoded by exons 1-10. Exon ORF15 is a "hot spot" for mutation, at least in the British population, in which it harbors 80% of the mutations found within a sample of 47 X-linked retinitis pigmentosa patients. Most RPGR mutations are unique to single families, which makes it difficult to demonstrate phenotype-genotype correlations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Carrier Proteins / genetics*
  • Dyneins / genetics
  • Eye Proteins*
  • Genotype
  • Humans
  • Phenotype
  • Proteins / genetics*
  • Retinitis Pigmentosa / genetics*
  • X Chromosome / genetics*


  • Carrier Proteins
  • Eye Proteins
  • Proteins
  • RPGR protein, human
  • Dyneins