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Related Experiment Videos

Progressive cone dystrophy associated with mutation in CNGB3.

Michel Michaelides1, Irene A Aligianis, John R Ainsworth

  • 1Institute of Ophthalmology, University College London, London, United Kingdom.

Investigative Ophthalmology & Visual Science
|May 27, 2004
PubMed
Summary

Mutations in the CNGB3 gene can cause both achromatopsia and progressive cone dystrophy. A novel mutation, Arg403Gln, in conjunction with a known mutation, Thr383fs, leads to progressive cone dystrophy.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • The CNGB3 gene encodes a subunit of the cone-specific cGMP-gated (CNG) channel.
  • Mutations in CNGB3 are a known cause of achromatopsia, a severe inherited retinal disease.
  • Phenotypic variability in inherited retinal diseases can arise from different mutations within the same gene.

Purpose of the Study:

  • To investigate the molecular basis for differing clinical presentations within a consanguineous family.
  • To identify the genetic cause of complete achromatopsia and progressive cone dystrophy in affected individuals.

Main Methods:

  • Ophthalmic examinations, including electroretinography, color fundus photography, and psychophysical testing.
  • DNA extraction and mutation screening of the CNGB3 gene in affected family members.

Related Experiment Videos

  • Analysis of genotype-phenotype correlations.

    • Main Results:

    • One individual with complete achromatopsia was homozygous for the known CNGB3 mutation 1148delC (Thr383fs).
    • Three individuals with progressive cone dystrophy were compound heterozygotes for 1148delC (Thr383fs) and a novel CNGB3 mutation, Arg403Gln.
    • The novel Arg403Gln mutation is located in the pore domain of the cone CNG channel beta-subunit.

    Conclusions:

    • Mutations in the CNGB3 gene are associated with both achromatopsia and autosomal recessive progressive cone dystrophy.
    • The novel Arg403Gln mutation in CNGB3, when present with the Thr383fs mutation, results in a progressive cone dystrophy phenotype.
    • This study highlights the role of CNGB3 in cone function and the genetic basis of cone dystrophies.