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01.06.2014 | Review

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

verfasst von: Judy Savige, Elisabet Ars, Richard G. H. Cotton, David Crockett, Hayat Dagher, Constantinos Deltas, Jie Ding, Frances Flinter, Genevieve Pont-Kingdon, Nizar Smaoui, Roser Torra, Helen Storey, The International Alport Mutation Consortium

Erschienen in: Pediatric Nephrology | Ausgabe 6/2014

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Abstract

X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual laboratories but are unpublished. The major genetic testing laboratories for X-linked Alport syndrome worldwide have established a Web-based database for published and unpublished COL4A5 variants (https://grenada.lumc.nl/LOVD2/COL4A/home.php?select_db=COL4A5). This conforms with the recommendations of the Human Variome Project: it uses the Leiden Open Variation Database (LOVD) format, describes variants according to the human reference sequence with standardized nomenclature, indicates likely pathogenicity and associated clinical features, and credits the submitting laboratory. The database includes non-pathogenic and recurrent variants, and is linked to another COL4A5 mutation database and relevant bioinformatics sites. Access is free. Increasing the number of COL4A5 variants in the public domain helps patients, diagnostic laboratories, clinicians, and researchers. The database improves the accuracy and efficiency of genetic testing because its variants are already categorized for pathogenicity. The description of further COL4A5 variants and clinical associations will improve our ability to predict phenotype and our understanding of collagen IV biochemistry. The database for X-linked Alport syndrome represents a model for databases in other inherited renal diseases.

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Titel: DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
verfasst von: Judy Savige
Elisabet Ars
Richard G. H. Cotton
David Crockett
Hayat Dagher
Constantinos Deltas
Jie Ding
Frances Flinter
Genevieve Pont-Kingdon
Nizar Smaoui
Roser Torra
Helen Storey
The International Alport Mutation Consortium
Publikationsdatum: 01.06.2014
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 6/2014
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-013-2486-8

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DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

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