G106R rhodopsin mutation is also present in Spanish ADRP patients

Ayuso, Carmen; Reig, Carlos Padrós i; Garcı́a-Sandoval, Blanca; Trujillo, M.J.; Antiñolo, Guillermo; Borrego, Salud; Carballo, Miguel

doi:10.3109/13816819609057111

Cited by 8 publications

(3 citation statements)

References 9 publications

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“…Preferential degeneration of the inferior retina has been reported in multiple families with other mild phenotypes, including patients with the Pro23His mutation. 7,18,[23][24][25][26]28,29 However, none of our Pro23Ala group demonstrated diffuse disease, which can sometimes be *Normal indicates healthy subjects; Pro23Ala, patients with proline to alanine substitution at codon 23; and Pro23His, patients with proline to histine substitution at codon 23. †The values in parentheses are the amplitudes in microvolts before transformation to a square root.…”

Section: Molecular Resultsmentioning

confidence: 93%

Description of a New Mutation in Rhodopsin, Pro23Ala, and Comparison With Electroretinographic and Clinical Characteristics of the Pro23His Mutation

Weleber

Lotery

et al. 2000

Arch Ophthalmol

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To report the clinical characteristics of a family with autosomal dominant retinitis pigmentosa caused by a proline-to-alanine mutation at codon 23 (Pro23Ala) of the rhodopsin gene and to compare this phenotype with that associated with the more common proline-to-histidine mutation at codon 23 (Pro23His). Methods: We examined 6 patients within a single pedigree. The electroretinograms (ERGs) of 35 patients with known Pro23His mutations and of 22 healthy individuals were reviewed. Scotopic dim flash-response amplitudes, maximum combined-response amplitudes, and photopic-response amplitudes from the ERGs of these patients were plotted against age. The ERG indices of 5 individuals in the Pro23Ala family were compared with those of the patients with Pro23His mutations and of healthy individuals. Multiple linear regression was performed to evaluate the effect of age and mutation type on amplitudes. Mutation detection was performed using single-strand conformation polymorphism analysis, followed by automated DNA sequencing. Results: Patients with the Pro23Ala mutation have a clinical phenotype characterized by onset of symptoms in the second to fourth decades of life, loss of superior visual field with relatively well-preserved inferior fields, and mild nyctalopia. Comparison with patients with the Pro23His mutation demonstrates statistically significant differences (PϽ.001) in responses to dim flash, maximum combined, and photopic responses between patients with these mutations after controlling for the effects of age. Patients with Pro23Ala mutations were less affected by ERG criteria than patients with Pro23His mutations. Patients with Pro23Ala mutations also differed significantly from healthy patients in all ERG indices examined (PϽ.001), after controlling for age. Conclusion: We describe a rare mutation in codon 23 of rhodopsin causing autosomal dominant retinitis pigmentosa. The retinal dystrophy associated with the Pro23Ala mutation is characteristically mild in presentation and course, with greater preservation of ERG amplitudes than the more prevalent Pro23His mutation.

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Section: Molecular Resultsmentioning

confidence: 93%

Description of a New Mutation in Rhodopsin, Pro23Ala, and Comparison With Electroretinographic and Clinical Characteristics of the Pro23His Mutation

Weleber

Lotery

et al. 2000

Arch Ophthalmol

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“…As compared to classic RP, sector RP is considered to be a less severe disease with subnormal ERG and visual field defects that correspond to the affected sectors [ 13 , 14 ]. In fact, it has been reported that sector RP is caused by a number of RHO mutations, including p.T4K [ 38 ], p.N15S [ 39 – 41 ], p.T17M [ 33 , 42 ], p.P23H [ 10 ], p.T58R [ 12 ], p.N78I [ 43 ], and G106R [ 11 , 25 , 44 ]. To the best of our knowledge, there have been nine RHO mutations reported in the Japanese adRP population [ 20 , 22 – 25 , 32 , 33 , 41 ], with detailed phenotypes described in five (p.N15S, p.T17M, p.G106R, p.E181K, and p.P347L) out of the nine mutations [ 20 , 23 – 25 , 32 , 33 , 41 ].…”

Section: Discussionmentioning

confidence: 99%

“…Table 2 summarizes the clinical features that were described for the genotype-phenotype correlations of the seven Japanese adRP families (including our families) with the seven RHO mutations (p.N15S, p.T17M, p.G106R, p.W126L, p.E181K, p.A346P, and p.P347L). Interestingly, patients with five other mutations (p.N15S [ 39 – 41 ], p.T17M [ 33 , 42 ], p.G106R [ 11 , 25 , 44 ], p.A346P [ 34 ], and p.P347L [ 5 , 32 , 45 ]) were found to have phenotypes that were similar to Japanese and other ethnic groups, although the clinical phenotypes for two other mutations (p.W126L and p.E181K [ 20 , 21 , 46 ]) could not be sufficiently evaluated [ 5 , 11 , 20 , 21 , 25 , 32 – 34 , 39 – 42 , 44 – 46 ]. These findings suggest that the location of each missense mutation is important for the purpose of predicting a diagnosis of either classic or sector RP and that there is a similarity of phenotypes between Japanese and other ethnic group RP patients who have identical RHO mutations.…”

Section: Discussionmentioning

confidence: 99%

RHOMutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa

Katagiri

Hayashi

Akahori

et al. 2014

Journal of Ophthalmology

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Purpose. To investigate genetic and clinical features of patients with rhodopsin (RHO) mutations in two Japanese families with autosomal dominant retinitis pigmentosa (adRP). Methods. Whole-exome sequence analysis was performed in ten adRP families. Identified RHO mutations for the cosegregation analysis were confirmed by Sanger sequencing. Ophthalmic examinations were performed to evaluate the RP phenotypes. The impact of the RHO mutation on the rhodopsin conformation was examined by molecular modeling analysis. Results. In two adRP families, we identified two RHO mutations (c.377G>T (p.W126L) and c.1036G>C (p.A346P)), one of which was novel. Complete cosegregation was confirmed for each mutation exhibiting the RP phenotype in both families. Molecular modeling predicted that the novel mutation (p.W126L) might impair rhodopsin function by affecting its conformational transition in the light-adapted form. Clinical phenotypes showed that patients with p.W126L exhibited sector RP, whereas patients with p.A346P exhibited classic RP. Conclusions. Our findings demonstrated that the novel mutation (p.W126L) may be associated with the phenotype of sector RP. Identification of RHO mutations is a very useful tool for predicting disease severity and providing precise genetic counseling.

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Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity

Parra

Cabral‐Macías

Matías-Florentino

et al. 2013

Gene

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G106R rhodopsin mutation is also present in Spanish ADRP patients

Cited by 8 publications

References 9 publications

Description of a New Mutation in Rhodopsin, Pro23Ala, and Comparison With Electroretinographic and Clinical Characteristics of the Pro23His Mutation

Description of a New Mutation in Rhodopsin, Pro23Ala, and Comparison With Electroretinographic and Clinical Characteristics of the Pro23His Mutation

RHOMutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa

Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity

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