Positional cloning of the gene associated with X-linked juvenile retinoschisis
Abstract
X-linked juvenile retinoschisis(RS) is a recessively inherited vitreo-retinal degeneration characterized by macular pathology and intraretinal splitting of the retina. The RS gene has been localized to Xp22.2 to an approximately 1 Mb interval between DXS418 and DXS999/DXS7161. Mapping and expression analysis of expressed sequence tags have identified a novel transcript, designated XLRS1, within the centromeric RS locus that is exclusively expressed in retina. The predicted XLRS1 protein contains a highly conserved motif implicated in cell-cell interaction and thus may be active in cell adhesion processes during retinal development. Mutational analyses of XLRS1 in affected individuals from nine unrelated RS families revealed one nonsense, one frameshift, one splice acceptor and six missense mutations segregating with the disease phenotype in the respective families. These data provide strong evidence that the XLRS1 gene, when mutated, causes RS.
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Mutations in the XLRS gene cause retinal degeneration.
“Mutations in the XLRS gene cause retinal degeneration (25)”
From Drusen proteome analysis: an approach to the etiology of age-related macular degeneration (2002) · cites this paper as [25]
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- Authors
- Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., & Weber, B. H. F.
- Affiliations
- University of Würzburg (DE)
- University of Saskatchewan (CA)
- Klinik und Poliklinik für Augenheilkunde Universitätsklinikum Regensburg (DE)
- Essen University Hospital (DE)
- Corresponding author
- Weber, Bernhard H.F.
- Venue
- Nature Genetics
- Published
- 1997-10
- Volume
- 17
- Issue
- 2
- Pages
- 164-170
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2080270797
- Cited by
- 497
- References
- 51
- Citations by year
- 2026: 12 · 2025: 10 · 2024: 16 · 2023: 15 · 2022: 24 · 2021: 20 · 2020: 22 · 2019: 13 · 2018: 21 · 2017: 14 · 2016: 22 · 2015: 14 · 2014: 12 · 2013: 8 · 2012: 19
- FWCI
- 7.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- University of Regensburg Publication Server (University of Regensburg) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Ocular Disorders and Treatments
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- X-linked retinoschisis, positional cloning, recessive inheritance, retinal development, cell adhesion, nonsense mutation, frameshift mutation, splice site mutation, missense mutations, expressed sequence tags
- MeSH terms
- Discoidins, Amino Acid Sequence, Base Sequence, Child, Cloning, Molecular, DNA Mutational Analysis, Exons, Eye Proteins, Female, Fungal Proteins, Humans, Introns, Genetic Linkage, Macular Degeneration, Male, Molecular Sequence Data, Pedigree, X Chromosome, Protozoan Proteins, Sequence Homology, Amino Acid, DNA Primers, DNA, Complementary, Lectins
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