Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene

Hum Mutat. 1997;9(2):110-7. doi: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D.


Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutations have been identified. Interestingly, these are all nonsense, frameshift or splice-site mutations; with one possible exception, missense mutations have not been found. This comprises all the known mutations in the disease.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Alkyl and Aryl Transferases*
  • Carrier Proteins / genetics*
  • Choroideremia / genetics*
  • Female
  • Frameshift Mutation
  • Gene Deletion
  • Genetic Linkage
  • Humans
  • Male
  • Mutation* / genetics
  • Point Mutation
  • Polymorphism, Genetic
  • Translocation, Genetic
  • X Chromosome / genetics
  • rab GTP-Binding Proteins*


  • Adaptor Proteins, Signal Transducing
  • CHM protein, human
  • Carrier Proteins
  • Alkyl and Aryl Transferases
  • rab GTP-Binding Proteins