Isolation of a candidate gene for choroideremia

Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2135-9. doi: 10.1073/pnas.89.6.2135.


Choroideremia is an X chromosome-linked retinal dystrophy of unknown pathogenesis. We have isolated cDNAs from a human retinal library with a genomic probe located at the X chromosomal breakpoint in a female with choroideremia and an X;13 translocation. This cDNA spans the breakpoint in the X;13 translocation female and is deleted in males who have choroideremia as part of a complex phenotype including mental retardation and deafness. However, this cDNA detects no alterations in the DNA of 34 males with isolated choroideremia. Nonetheless, the cDNA does detect reduced or absent levels of mRNA in three-quarters of male patients with an apparently intact gene. These data support the hypothesis that this cDNA represents the gene in which mutations cause choroideremia.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Southern
  • Cell Line
  • Choroideremia / genetics*
  • Chromosome Walking
  • DNA / genetics*
  • DNA / isolation & purification
  • Female
  • Gene Library
  • Genes*
  • Hybrid Cells
  • Male
  • Mice
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides
  • Polymerase Chain Reaction / methods
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Reference Values
  • Restriction Mapping
  • X Chromosome*


  • Oligodeoxyribonucleotides
  • RNA, Messenger
  • DNA

Associated data

  • GENBANK/M83773