April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
CEP290base: A Unique Overview of CEP290 Mutations and Their Associated Phenotypes
Author Affiliations & Notes
  • S. Lefever
    Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium
  • F. Coppieters
    Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium
  • J. Vandesompele
    Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium
  • E. De Baere
    Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium
  • Footnotes
    Commercial Relationships  S. Lefever, None; F. Coppieters, None; J. Vandesompele, None; E. De Baere, None.
  • Footnotes
    Support  Special Research Fund (BOF)
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2575. doi:
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      S. Lefever, F. Coppieters, J. Vandesompele, E. De Baere; CEP290base: A Unique Overview of CEP290 Mutations and Their Associated Phenotypes. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2575.

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

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Abstract

Purpose: : Mutations in CEP290 may cause a wide spectrum of partially overlapping ciliopathies, ranging from isolated Leber Congenital Amaurosis to the lethal Meckel-Grüber syndrome. Although some mutations seem to be phenotype-specific, others segregate with distinct diseases. In addition, the phenotype is highly variable, probably due to the presence of modifier alleles in other members of the ciliary proteome. The goal of this study was to design a locus-specific database for mutations in the CEP290 gene, containing both genotypic and phenotypic information.

Methods: : The database was created using MySQL. PHP and JavaScript were used to develop the web-based interface. Mutation nomenclature is according to the HGVS guidelines.

Results: : CEP290base (http://medgen.ugent.be/CEP290base) contains all mutations in CEP290 published so far, including detailed information on their pathogenic potential. The database links to dbSNP, UniProt and OMIM and automatically fills in queries for PolyPhen and SIFT. In addition, a comprehensive description of phenotypic features is provided for each patient in different systems (ocular, renal and neurological). The database lists all variants in both an overview and graphical representation, and offers easy access to patients and variants through several query possibilities. For patients with CEP290 mutations, variants in other genes can also be included, thereby providing the opportunity to link modifiers to associated clinical manifestations. Last but not least, users can submit novel or known variants they have identified.

Conclusions: : In conclusion, CEP290base offers the first comprehensive locus-specific mutation database of all mutations identified in CEP290 to date, and their associated phenotypes. The database contributes to the establishment of genotype-phenotype correlations, and may assist in providing prognostic information for a patient with CEP290-related pathology.

Keywords: mutations • gene modifiers • retinal degenerations: hereditary 
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