A Novel Mutation (I143NT) in Guanylate Cyclase-Activating Protein 1 (GCAP1) Associated with Autosomal Dominant Cone Degeneration
Investigative Ophthalmology & Visual Science2004Vol. 45(11), pp. 3863–3863
Citations Over TimeTop 18% of 2004 papers
Koji M. Nishiguchi, Izabela Sokal, Lili Yang, Nirmalya Roychowdhury, Krzysztof Palczewski, Eliot L. Berson, Thaddeus P. Dryja, Wolfgang Baehr
Abstract
A novel GCAP1 mutation, I143NT, caused a form of autosomal dominant cone degeneration that destroys foveal cones by mid-life but spares some cones in the peripheral retina up to 75 years. Properties of the GCAP1-I143NT mutant protein suggested that it is incompletely inactivated by high Ca2+ concentrations as should occur with dark adaptation. The continued activity of the mutant GCAP1 likely results in higher-than-normal scotopic cGMP levels which may, in turn, account for the progressive loss of cones.
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