Autosomal-dominant Retinitis Pigrnentosa Associated with an Arg-135-Trp Point Mutation of the Rhodopsin Gene

Pannarale, M. R.; Grammatico, Barbara; Iannaccone, Alessandro; Forte, Renato; Bernardo, Carmelilia De; Flagiello, Luisa; Porto, G. Del

doi:10.1016/s0161-6420(96)30485-5

Cited by 19 publications

(14 citation statements)

References 34 publications

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“…39,40 Of note, none of the examined patients in these Š two families demonstrated the white dots that have been described in association with this genotype. 40,41 An explanation for the absence of the dots could be that the examined patients were either too young or too old to exhibit this distinct feature.…”

Section: Discussionmentioning

confidence: 75%

Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

Audo

Manes

Mohand‐Saïd

et al. 2010

Invest. Ophthalmol. Vis. Sci.

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The coding exons and flanking intronic regions of RHO were PCR amplified, purified, and sequenced in the index patient. RESULTS. Of this French adRP sample, 16.5% carried an RHO mutation. Three different families showed a novel mutation (p. Leu88Pro, p.Met207Lys and p.Gln344Pro), while ten unrelated families showed recurrent, previously published mutations (p.Asn15Ser, p.Leu131Pro, p.Arg135Trp, p.Ser334GlyfsX21 and p.Pro347Leu). All mutations co-segregated with the phenotype within a family, and the novel mutations were not identified in control samples. CONCLUSIONS. This study revealed that the prevalence of RHO mutations in French adRP patients is in accordance with that in other studies from Europe. Most of the changes identified herein reflect recurrent mutations, within which p.Pro347Leu substitution is the most prevalent. Nevertheless, almost one fourth of the changes are novel, indicating that, although RHO is the first gene implicated and probably the most studied gene in RP, it is still important performing mutation analysis in RHO to detect novel changes. The detailed phenotype-genotype analyses in all available family members deliver the basis for therapeutic approaches in those families.

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Section: Discussionmentioning

confidence: 75%

Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

Audo

Manes

Mohand‐Saïd

et al. 2010

Invest. Ophthalmol. Vis. Sci.

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“…Arg135 mutations in rhodopsin cause an aggressive form of RP. Patients with an Arg135 mutation usually experienced much faster progression to blindness than do patients who carry most other rhodopsin mutations: almost all young patients (under 20 years of age) examined exhibited substantial visual field loss and rod function impairment (26)(27)(28)(29). The discernible difference in the pattern of retinal dysfunction of RP patients who carry Arg135 rhodopsin mutations is correlated with unique biochemical and cellular defects in the mutant proteins.…”

Section: Discussionmentioning

confidence: 99%

Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes

Chuang¹,

Vega²,

Jun³

et al. 2004

J. Clin. Invest.

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Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous degenerative eye disease. Mutations at Arg135 of rhodopsin are associated with a severe form of autosomal dominant RP. This report presents evidence that Arg135 mutant rhodopsins (e.g., R135L, R135G, and R135W) are hyperphosphorylated and bind with high affinity to visual arrestin. Mutant rhodopsin recruits the cytosolic arrestin to the plasma membrane, and the rhodopsin-arrestin complex is internalized into the endocytic pathway. Furthermore, the rhodopsin-arrestin complexes alter the morphology of endosomal compartments and severely damage receptor-mediated endocytic functions. The biochemical and cellular defects of Arg135 mutant rhodopsins are distinct from those previously described for class I and class II RP mutations, and, hence, we propose that they be named class III. Impaired endocytic activity may underlie the pathogenesis of RP caused by class III rhodopsin mutations.

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“…Most reported RHO gene mutations have been found in adRP, 3,[7][8][9][10][11][12] whereas to our knowledge, only a few reports have described mutations in arRP. [4][5][6] In the present study, we found a novel nonsense mutation in two Indonesian RP families that leads to a premature stop at codon 161 in exon 2 of the RHO gene (c.482G>A, p.W161X).…”

Section: Discussionmentioning

confidence: 99%

A novel nonsense mutation in Rhodopsin gene in two Indonesian Families with Autosomal Recessive Retinitis Pigmentosa

Kartasasmita

Fujiki

Iskandar

et al. 2010

Ophthalmic Genetics

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Autosomal-dominant Retinitis Pigrnentosa Associated with an Arg-135-Trp Point Mutation of the Rhodopsin Gene

Cited by 19 publications

References 34 publications

Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes

A novel nonsense mutation in Rhodopsin gene in two Indonesian Families with Autosomal Recessive Retinitis Pigmentosa

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