Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration
نویسندگان
چکیده
منابع مشابه
Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration
Crx is a novel paired-like homeodomain protein that is expressed predominantly in retinal photoreceptors and pinealocytes. Its gene has been mapped to chromosome 19q13.3, the site of a disease locus for autosomal dominant cone-rod dystrophy (CORDII). Analysis of the proband from a family with autosomal dominant CORD revealed an Arg41Trp substitution in the third residue of the CRX homeodomain. ...
متن کاملRPGR-associated retinal degeneration in human X-linked RP and a murine model.
PURPOSE We investigated the retinal disease due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in human patients and in an Rpgr conditional knockout (cko) mouse model. METHODS XLRP patients with RPGR-ORF15 mutations (n = 35, ages at first visit 5-72 years) had clinical examinations, and rod and cone perimetry. Rpgr-cko mice, in which the proximal promoter and first exon...
متن کاملIdentification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
PURPOSE To test the incidence of mutations in RPGR ORF15 in six families with X-linked progressive retinal degeneration (cone-rod dystrophy [XLCORD], macular or cone dystrophy) and to undertake a detailed phenotypic assessment of families in whom ORF15 mutations were identified. METHODS To amplify and sequence ORF15 in its entirety, a cloning strategy was developed. Families with mutations in...
متن کاملDifferent RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.
The canine disease, X-linked progressive retinal atrophy (XLPRA), is similar to human RP3, an X-linked form of retinitis pigmentosa, and maps to the same region in the X chromosome. Analysis of the physical map of the XLPRA and RP3 intervals shows a high degree of conservation in terms of genes and their order. We have found different mutations in exon ORF15 of the RPGR gene in two distinct mut...
متن کاملSevere retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene
PURPOSE To describe the genotype-phenotype correlation and serial observations in a five-generation Czech family with X-linked retinitis pigmentosa (XLRP) associated with severe visual impairment in women. METHODS Comprehensive ophthalmological examination including spectral domain optical coherence tomography (SD-OCT) was performed. Based on the pedigree structure and women being severely af...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2018
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddy342