The human retinitis pigmentosa GTPase regulator gene variant database

Shu, Xinhua; McDowall, Ewan; Brown, A. F.; Wright, Alan F.

doi:10.1002/humu.20733

Cited by 26 publications

(25 citation statements)

References 37 publications

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“…Mutations that were confirmed likely to be pathogenic either have been reported in the literature or, in the case of novel mutations, were predicted to result in the disruption of normal protein translation. We additionally cross-referenced the mutations with the RPGR variant database that is maintained by the Medical Research Council Human Genetics Unit, Edinburgh, UK,34, 35 to corroborate novel mutations. Mutations were also entered into Mutalyzer 2.0.23 (https://mutalyzer.nl/) to confirm disruption of protein translation 36 …”

Section: Methodsmentioning

confidence: 99%

Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR -Associated Retinopathy

Tee

Carroll

Webster

et al. 2017

American Journal of Ophthalmology

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PurposeTo quantify retinal structure and progression using spectral-domain optical coherence tomography (SDOCT) in patients with retinitis pigmentosa (RP) associated with retinitis pigmentosa GTPase regulator gene (RPGR) mutations.DesignRetrospective observational case series.MethodsSetting: Moorfields Eye Hospital, London, United Kingdom. Subjects: Both eyes of 32 patients. SDOCT follow-up period of >1 year (3.1 ± 1.4 years). Main Outcome Measures: Ellipsoid zone (EZ) width (EZW) and outer nuclear layer (ONL) and inner retinal layer (IRL) thickness measurements. Progression rates, interocular symmetry, and association with age and genotype were investigated.ResultsSignificant differences were observed between baseline and final measurements of EZW and ONL thickness, but not for IRL thickness. Baseline and final EZWs were 2438 ± 1646 μm and 1901 ± 1423 μm for right eyes (P < .0001); 2420 ± 1758 μm and 1922 ± 1482 μm for left eyes (P < .0001). EZW constriction rates were 176.6 ± 130.1 μm/year and 173.1 ± 146.8 μm/year for right and left eyes. ONL thinning rates were 2.58 ± 2.85 μm/year and 2.52 ± 3.54 μm/year for right and left eyes. Interocular differences in EZW and ONL progression were not significant (P = .8609 and P = .6735, respectively). Strong correlations were found between EZW constriction rates of right and left eyes (rs = 0.627, P = .0002) and between EZW constriction and baseline EZW (rs = 0.714, P < .0001). There was moderate negative correlation between EZW constriction and age (rs = −0.532, P < .0001). Correlation between ONL thinning and age was not significant, as were differences between EZW and ONL progression rates with respect to genotype.ConclusionsThis study provides SDOCT progression rates for RPGR-associated RP. There is overall interocular symmetry with implications for future treatment trials where 1 eye could serve as a control.

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Section: Methodsmentioning

confidence: 99%

Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR -Associated Retinopathy

Tee

Carroll

Webster

et al. 2017

American Journal of Ophthalmology

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“…3,4 Here, the majority of mutations were found in the alternatively spliced exon ORF15, whereas exons 1 to 15 carry a minor portion of all RPGR mutations. [5][6][7][8][9] A few mutations in exon 1 to 15 of RPGR have been associated with additional nonocular manifestations. In a family with XlRP described previously, two members displayed a complex phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.…”

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confidence: 99%

Mutation- and Tissue-Specific Alterations ofRPGRTranscripts

Schmid

Glaus

Cremers

et al. 2010

Invest. Ophthalmol. Vis. Sci.

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These findings show that splicing of RPGR is precisely regulated in a tissue-dependent fashion and suggest that mutations in RPGR frequently interfere with the expression of alternative transcript isoforms. These results implicate the importance of RPGR transcript analysis in patients with RP. The authors further discuss RPGR splicing as a modifier of different disease phenotypes described in patients with XlRP.

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“…Mutations in human RPGR cause X‐linked retinitis pigmentosa, specifically RP3 (Shu et al . ), and mutations in the canine gene have been reported in dogs with X‐linked progressive retinal atrophy (XLPR) (Zhang et al . ).…”

Section: Discussionmentioning

confidence: 99%

Muscular dystrophy in the Japanese Spitz: an inversion disrupts theDMDandRPGRgenes

et al. 2015

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An X-linked muscular dystrophy, with deficiency of full-length dystrophin and expression of a low molecular weight dystrophin-related protein, has been described in Japanese Spitz dogs. The aim of this study was to identify the causative mutation and develop a specific test to identify affected cases and carrier animals. Gene expression studies in skeletal muscle of an affected animal indicated aberrant expression of the Duchenne muscular dystrophy (dystrophin) gene and an anomaly in intron 19 of the gene. Genome-walking experiments revealed an inversion that interrupts two genes on the X chromosome, the Duchenne muscular dystrophy gene and the retinitis pigmentosa GTPase regulator gene. All clinically affected dogs and obligate carriers that were tested had the mutant chromosome, and it is concluded that the inversion is the causative mutation for X-linked muscular dystrophy in the Japanese Spitz breed. A PCR assay that amplifies mutant and wild-type alleles was developed and proved capable of identifying affected and carrier individuals. Unexpectedly, a 7-year-old male animal, which had not previously come to clinical attention, was shown to possess the mutant allele and to have a relatively mild form of the disease. This observation indicates phenotypic heterogeneity in Japanese Spitz muscular dystrophy, a feature described previously in humans and Golden Retrievers. With the availability of a simple, fast and accurate test for Japanese Spitz muscular dystrophy, detection of carrier animals and selected breeding should help eliminate the mutation from the breed.

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The human retinitis pigmentosa GTPase regulator gene variant database

Cited by 26 publications

References 37 publications

Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR -Associated Retinopathy

Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR -Associated Retinopathy

Mutation- and Tissue-Specific Alterations ofRPGRTranscripts

Muscular dystrophy in the Japanese Spitz: an inversion disrupts theDMDandRPGRgenes

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