http://purl.uniprot.org/citations/11146732 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/11146732 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/11146732 | http://www.w3.org/2000/01/rdf-schema#comment | "ObjectiveTo describe the phenotype in 3 families with dominantly inherited cone and cone-rod dystrophy with mutations in guanylate cyclase activator 1A (GUCA1A), the gene-encoding guanylate cyclase activator protein-1 (GCAP-1).MethodsPhenotypic characterization with psychophysical and electrophysiological evaluation and confocal laser scanning ophthalmoscopy was performed in 2 families with a Tyr99Cys mutation and 1 family with a Pro50Leu mutation. Haplotype analysis was performed in the families with Tyr99Cys mutation.ResultsThe families with a Y99C mutation were shown to be ancestrally related. Decreased visual acuity and loss of color vision occurred after the age of 20 years, followed by progressive atrophy of the central 5 degrees to 10 degrees. Electrophysiological testing revealed generalized loss of cone function, with preservation of rod function. Abnormal rod and cone sensitivities were confined to the central 5 degrees to 10 degrees. Confocal laser scanning ophthalmoscopy imaging showed abnormalities of autofluorescence in early disease. Subjects with a Pro50Leu mutation demonstrated marked variability in expressivity from minimal abnormalities of macular function to cone-rod dystrophy.ConclusionsThe phenotype associated with the Y99C mutation in GUCA1A is distinctive, with little variation in expression. By contrast, that associated with the P50L mutation demonstrates variable expressivity.Clinical relevancePhenotype-genotype correlation in these 2 mutations demonstrates 2 different phenotypes."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Warren M.J."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Warren M.J."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Bhattacharya S.S."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Bhattacharya S.S."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Bird A.C."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Bird A.C."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Downes S.M."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Downes S.M."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Payne A.M."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Payne A.M."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Holder G.E."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Holder G.E."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Fitzke F.W."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/author | "Fitzke F.W."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/name | "Arch. Ophthalmol."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/name | "Arch. Ophthalmol."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/pages | "96-105"xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/pages | "96-105"xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/title | "Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1."xsd:string |
http://purl.uniprot.org/citations/11146732 | http://purl.uniprot.org/core/title | "Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1."xsd:string |