Clinical Study Novel GUCA1AMutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients
نویسندگان
چکیده
1 Department of Cellular Therapy and Regenerative Medicine, Andalusian Centre for Molecular Biology and Regenerative Medicine (CABIMER), ‘Isla Cartuja’, 41092 Seville, Spain 2Department of Genetics, IIS-Jiménez Dı́az Foundation, 28040 Madrid, Spain 3 Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, 46010 Valencia, Spain 4Department of Ophthalmology, Hospital ‘Fundación Jiménez Dı́az’, 28040 Madrid, Spain 5 Department of Genetics, UCL-Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK
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The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
PURPOSE To present a detailed phenotypic and molecular study of a series of 18 patients from 11 families with retinal dystrophies consequent on mutations in the cone-rod homeobox (CRX) gene and to report a novel phenotype. METHODS Families were ascertained from a tertiary clinic in the United Kingdom and enrolled into retinal dystrophy studies investigating the phenotype and molecular basis o...
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Here, we report two novel GUCA1A (the gene for guanylate cyclase activating protein 1) mutations identified in unrelated Spanish families affected by autosomal dominant retinal degeneration (adRD) with cone and rod involvement. All patients from a three-generation adRD pedigree underwent detailed ophthalmic evaluation. Total genome scan using single-nucleotide polymorphisms and then the linkage...
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Retinal dystrophies are genetically determined diseases, implying the loss of function of the retina with a wide phenotypic and genotypic variability. There are very few phenotypic, genotypic and epidemiological data on retinal dystrophies in Latin America. The Objective of this study is to describe the epidemiological and clinical characteristics of hereditary retinal and choroidal diseases, i...
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PURPOSE All mutations in the retinal guanylate cyclase gene (GUCY2D) that causes autosomal dominant cone-rod dystrophy (CORD) are associated with an amino acid substitution in codon 838. A novel heterozygous complex missense mutation of I915T and G917R in the GUCY2D gene was found in a Japanese family with autosomal dominant CORD. The clinical features associated with this mutation were describ...
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