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Hum Mutat ; 35(11): 1354-62, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25168334

RESUMO

Mutations in the OPN1LW (L-) and OPN1MW (M-)cone opsin genes underlie a spectrum of cone photoreceptor defects from stationary loss of color vision to progressive retinal degeneration. Genotypes of 22 families with a range of cone disorders were grouped into three classes: deletions of the locus control region (LCR); missense mutation (p.Cys203Arg) in an L-/M-hybrid gene; and exon 3 single-nucleotide polymorphism (SNP) interchange haplotypes in an otherwise normal gene array. Moderate-to-high myopia was observed in all mutation categories. Individuals with LCR deletions or p.Cys203Arg mutations were more likely to have nystagmus and poor vision, with disease progression in some p.Cys203Arg patients. Three disease-associated exon 3 SNP haplotypes encoding LIAVA, LVAVA, or MIAVA were identified in our cohort. These patients were less likely to have nystagmus but more likely to show progression, with all patients over the age of 40 years having marked macular abnormalities. Previously, the haplotype LIAVA has been shown to result in exon 3 skipping. Here, we show that haplotypes LVAVA and MIAVA also result in aberrant splicing, with a residual low level of correctly spliced cone opsin. The OPN1LW/OPN1MW:c.532A>G SNP, common to all three disease-associated haplotypes, appears to be principally responsible for this mutational mechanism.


Assuntos
Opsinas dos Cones/genética , Estudos de Associação Genética , Genótipo , Mutação , Fenótipo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Substituição de Aminoácidos , Criança , Pré-Escolar , Ordem dos Genes , Inativação Gênica , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Haplótipos , Hemizigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Oftalmoscópios , Linhagem , Polimorfismo de Nucleotídeo Único , Splicing de RNA , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/genética , Deleção de Sequência , Adulto Jovem
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