ArticleAmerican journal of human genetics1998
A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 69 citations in OpenAlex.
- Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.3 Biotech · 2017Review
- Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.Investigative ophthalmology & visual science · 2014Article
- Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.Experimental eye research · 2013Article
- Instability in X chromosome inactivation patterns in AMD: a new risk factor?Medical hypothesis, discovery & innovation ophthalmology journal · 2013Review
- Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.Investigative ophthalmology & visual science · 2012Article
- Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).Human molecular genetics · 2012Article
- Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Advances in experimental medicine and biology · 2010Review
- RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Journal of genetics · 2009Review
- Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.Molecular vision · 2008Article
- Progressive retinal atrophy in the Border Collie: a new XLPRA.BMC veterinary research · 2008Article
- Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.Vision research · 2008Article
- Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.Journal of medical genetics · 2006Article
- Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2004Article
- RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.American journal of human genetics · 2003Article
- A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.American journal of human genetics · 2002Article
- A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.American journal of human genetics · 1999Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
Abstract
Two genetic loci, RP2 and RP3, for X-linked retinitis pigmentosa (XLRP) have been localized to Xp11.3-11.23 and Xp21.1, respectively. RP3 appears to account for 70% of XLRP families; however, mutations in the RPGR gene (isolated from the RP3 region) are identified in only 20% of affected families. Close location of XLRP loci at Xp and a lack of unambiguous clinical criteria do not permit assignment of genetic subtype in a majority of XLRP families; nonetheless, in some pedigrees, both RP2 and RP3 could be excluded as the causative locus. We report the mapping of a novel locus, RP24, by haplotype and linkage analysis of a single XLRP pedigree. The RP24 locus was identified at Xq26-27 by genotyping 52 microsatellite markers spanning the entire X chromosome. A maximum LOD score of 4.21 was obtained with DXS8106. Haplotype analysis assigned RP24 within a 23-cM region between the DXS8094 (proximal) and DXS8043 (distal) markers. Other chromosomal regions and known XLRP loci were excluded by obligate recombination events between markers in those regions and the disease locus. Hemizygotes from the RP24 family have early onset of rod photoreceptor dysfunction; cone receptor function is normal at first, but there is progressive loss. Patients at advanced stages show little or no detectable rod or cone function and have clinical hallmarks of typical RP. Mapping of the RP24 locus expands our understanding of the genetic heterogeneity in XLRP and will assist in development of better tools for diagnosis.
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