Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)

Hum Mutat. 1999;13(2):141-5. doi: 10.1002/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q.


We have identified a novel RPGR gene mutation in a large Dutch family with X-linked retinitis pigmentosa (RP3). In affected members, a G-->T transversion was found at position +1 of the 5' splice site of intron 5 of the RPGR (retinitis pigmentosa GTPase regulator) gene. Analysis of this mutation at the RNA level showed cryptic splicing upstream of the mutation in exon 5 leading to a frameshift and downstream termination codon. Identification of the causative mutation in this family has facilitated the detection of females at risk of having an affected son.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / genetics*
  • Eye Proteins*
  • Female
  • Frameshift Mutation / genetics*
  • Genetic Linkage
  • Heterozygote
  • Humans
  • Male
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • RNA Splicing / genetics
  • Retinitis Pigmentosa / genetics*
  • X Chromosome / genetics*


  • Carrier Proteins
  • Eye Proteins
  • RPGR protein, human