May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
The Human Retinitis Pigmentosa GTPase Regulator Gene Variant Database
Author Affiliations & Notes
  • X. Shu
    Medical and Developmental Genetics, MRC Human Genetics Unit, Edinburgh, United Kingdom
  • E. McDowall
    Medical and Developmental Genetics, MRC Human Genetics Unit, Edinburgh, United Kingdom
  • A. F. Brown
    Medical and Developmental Genetics, MRC Human Genetics Unit, Edinburgh, United Kingdom
  • A. F. Wright
    Medical and Developmental Genetics, MRC Human Genetics Unit, Edinburgh, United Kingdom
  • Footnotes
    Commercial Relationships  X. Shu, None; E. McDowall, None; A.F. Brown, None; A.F. Wright, None.
  • Footnotes
    Support  UK Medical Research Council; British Retinitis Pigmentosa Society; EVI-GENORET
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 2981. doi:https://doi.org/
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      X. Shu, E. McDowall, A. F. Brown, A. F. Wright; The Human Retinitis Pigmentosa GTPase Regulator Gene Variant Database. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2981. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : X-linked retinitis pigmentosa (XLRP) is a genetically heterogeneous retinal degeneration. The major subtype of XLRP is RP3, which accounts for 6-20% of all retinitis pigmentosa cases. Mutations in the RP3 gene, called Retinitis Pigmentosa GTPase Regulator (RPGR), cause a number of different retinopathies. A total of 293 mutations in RPGR have been identified to date, in order to facilitate researcher access to all mutation information and related data, we set up the RPGR variant database.

Methods: : All the variant data in the database were collected from the available publications as well as abstracts presented at the meeting of Association for Research in Vision and Ophthalmology (ARVO). We searched PubMed and ARVO abstracts from 1996 through October 2007 using the key words XLRP, RP3 and RPGR. The nomenclature for RPGR is based on accepted guidelines. The website is created based on MySQL database software system through the Leiden Open source Variation Database (LOVD) application

Results: : there are 293 different pathogenic mutations, including 257 mutations within exons, 27 mutations in introns and 9 large deletions.The most common class of mutation in RPGR are small deletions (1-28 bp) that result in reading frameshifts and the second most common class are nonsense mutations. The RPGR mutation database consists of a main page, which includes general information, allelic variants tables, database search options and links to other resources. Allelic variant tables include information on all allelic variants and a summary of the type and distribution of allelic variants. The database search facility allows searching on any database field.

Conclusions: : An RPGR database has been created using the LOVD database software system and has comprehensive search and analysis tools. This database is a central resource of RPGR sequence variant data for investigators and will facilitate the interpretation of new mutations, variants and polymorphisms when these are identified in patients.

Keywords: retinitis • retinal degenerations: cell biology • degenerations/dystrophies 
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