Journal ArticleDOI
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28
Shomi S. Bhattacharya,Alan F. Wright,J. F. Clayton,W. H. Price,C. I. Phillips,Carol M. E. McKeown,M. Jay,Alan C. Bird,Peter L. Pearson,E. M. Southern,H. J. Evans +10 more
TLDR
X chromosome-specific recombinant DNA probes which can detect restriction fragment length polymorphisms have been used to localize the XLRP gene(s) to a subregion of the X chromosome using linkage analysis, and one of the probes, L1.28, has been shown to be closely linked to XLRP in five kindreds, indicating that this probe is potentially useful for carrier detection and early diagnosis in about 40% of cases.Abstract:
Retinitis pigmentosa (RP) is a group of retinal degenerations characterized by progressive visual field loss, night blindness and pigmentary retinopathy1. Its prevalence is in the region of 1–2 in 5,000 of the general population, making it one of the commoner causes of blindness in early and middle life2,3. Although 36–48% of RP patients are isolated cases, the remainder show autosomal dominant, autosomal recessive or X-linked modes of inheritance4,5. The X-linked variety (XLRP) is found in 14–22% of RP families in the UK2,5. In the present study, X chromosome-specific recombinant DNA probes which can detect restriction fragment length polymorphisms have been used to localize the XLRP gene(s) to a subregion of the X chromosome using linkage analysis. One of the probes, L1.28, has been shown to be closely linked to XLRP in five kindreds,, with 95% confidence limits of 0–15 centimorgans (maximum LOD score of 7.89 at a distance of 3 centimorgans). This suggests that the XLRP locus lies on the proximal part of the short arm of the X chromosome. This probe is potentially useful for carrier detection and early diagnosis in about 40% of cases, provided that genetic heterogeneity can be excluded by analysis of further families.read more
Citations
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Journal ArticleDOI
The molecular basis of human retinal and vitreoretinal diseases.
TL;DR: A comprehensive picture of retinal and vitreoretinal disorders, caused by mutations in more than 165 genes is presented, including biological, clinical, genetic and molecular information.
Journal ArticleDOI
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Alfons Meindl,K. L. Dry,Kathrin Herrmann,Forbes D C Manson,Alfredo Ciccodicola,A. J. Edgar,Maria Raquel Santos Carvalho,Helene Achatz,Heide Hellebrand,Alan Lennon,Carmela Migliaccio,K. Porter,Eberhart Zrenner,Alan C. Bird,Marcelle Jay,Birgit Lorenz,B. Wittwer,Michele D'Urso,Thomas Meitinger,A F Wright +19 more
TL;DR: The two intragenic deletions, two nonsense and three missense mutations within conserved domains provide evidence that RPGR (retinitis pigmentosa GTPase regulator) is the RP3 gene.
Journal ArticleDOI
Retinitis Pigmentosa: Genes and Disease Mechanisms
Francesco Parmeggiani,Francesco Sorrentino,Diego Ponzin,Vanessa Barbaro,Stefano Ferrari,Enzo Di Iorio +5 more
TL;DR: Which genes are involved in the genesis of RP and how mutations can lead to retinal degeneration are reviewed to reveal important information with respect to the likelihood of disease development and choices of therapy.
Journal ArticleDOI
Positional cloning of the gene for X-linked retinitis pigmentosa 2
Uwe Schwahn,Steffen Lenzner,J Dong,Silke Feil,B. Hinzmann,G.C.F. van Duijnhoven,Renate Kirschner,Myriam Hemberger,Arthur A.B. Bergen,Thomas Rosenberg,Alfred J. L. G. Pinckers,Reinald Fundele,André Rosenthal,Frans P.M. Cremers,Hans-Hilger Ropers,Hans-Hilger Ropers,Wolfgang Berger +16 more
TL;DR: The data provide evidence that mutations in this gene, designated RP2, are responsible for progressive retinal degeneration and the predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of ß-tubulin folding.
References
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Journal Article
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.
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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Alfons Meindl,K. L. Dry,Kathrin Herrmann,Forbes D C Manson,Alfredo Ciccodicola,A. J. Edgar,Maria Raquel Santos Carvalho,Helene Achatz,Heide Hellebrand,Alan Lennon,Carmela Migliaccio,K. Porter,Eberhart Zrenner,Alan C. Bird,Marcelle Jay,Birgit Lorenz,B. Wittwer,Michele D'Urso,Thomas Meitinger,A F Wright +19 more