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The Molecular Basis of Achromatopsia

  • Susanne Kohl
  • Herbert Jägle
  • Eberhart Zrenner
  • Lindsay T. Sharpe
  • Bernd Wissinger

Summary

Achromatopsia is a rare genetic heterogenic disorder with known loci on chromosome 2q11 (ACHM2) and chromosome 8q21 (ACHM3). These loci encode the genes for the channel-forming α- (CNGA3) and the modulatory (β-subunit (CNGB3) of the cone photoreceptor cGMP gated channel — the final component of the cone photoreceptor transduction cascade. Candidate gene screening of these genes in patients affect by Achromatopsia resulted in the identification of a large number of predominantly missense mutations in the CNGA3 gene and a discrete number of mostly nonsense mutations in the CNGB3 gene. Mutations in both genes result in Achromatopsia with clinically indistinguishable phenotypes.

Keywords

Transmembrane Helix Cone Photoreceptor Autosomal Recessive Mode Stop Codon Mutation Cone Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2001

Authors and Affiliations

  • Susanne Kohl
    • 1
  • Herbert Jägle
    • 2
  • Eberhart Zrenner
    • 3
  • Lindsay T. Sharpe
    • 2
  • Bernd Wissinger
    • 1
  1. 1.Molecular Genetics LaboratoryUniversity Eye HospitalTuebingenGermany
  2. 2.Psychophysics LaboratoryUniversity Eye HospitalTuebingenGermany
  3. 3.University Eye HospitalTuebingenGermany

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