Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects
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چکیده
منابع مشابه
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects
Similar retinitis pigmentosa (RP) phenotypes can result from mutations affecting different rhodopsin regions, and distinct amino acid substitutions can cause different RP severity and progression rates. Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L. The...
متن کاملRhodopsin mutations in autosomal dominant retinitis pigmentosa.
DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence...
متن کاملRhodopsin mutations in Chinese patients with retinitis pigmentosa.
AIM To determine the pattern of rhodopsin mutations in Chinese retinitis pigmentosa (RP) patients. METHODS The rhodopsin gene was examined in 101 RP patients and 190 controls from Hong Kong. RESULTS Three coding changes were identified: Pro347Leu, Ala299Ser, and 5211delC. Each protein sequence alteration was found in one patient. Ala299Ser also existed in two controls. CONCLUSION The C-te...
متن کاملSpectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa
PURPOSE To determine the spectrum and frequency of rhodopsin gene (RHO) mutations in Korean patients with retinitis pigmentosa (RP) and to characterize genotype-phenotype correlations in patients with mutations. METHODS The RHO mutations were screened by direct sequencing, and mutation prevalence was measured in patients and controls. The impact of missense mutations to RP was predicted by se...
متن کاملNovel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
AIM To identify novel or rare rhodopsin gene mutations in patients with autosomal dominant retinitis pigmentosa and description of their clinical phenotype. METHODS The complete rhodopsin gene was screened for mutations by DNA sequencing in index patients. Mutation specific assays were used for segregation analysis and screening for controls. Eight patients from five families and their relati...
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ژورنال
عنوان ژورنال: Vision Research
سال: 2006
ISSN: 0042-6989
DOI: 10.1016/j.visres.2006.08.018