Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?
This study examined whether gene-specific DNA variant databases for inherited diseases of the kidney fulfilled the Human Variome Project recommendations of being complete, accurate, clinically relevant and freely available. A recent review identified 60 inherited renal diseases caused by mutations in 132 genes. The disease name, MIM number, gene name, together with "mutation" or "database," were used to identify web-based databases. Fifty-nine diseases (98%) due to mutations in 128 genes had a variant database. Altogether there were 349 databases (a median of 3 per gene, range 0-6), but no gene had two databases with the same number of variants, and 165 (50%) databases included fewer than 10 variants. About half the databases (180, 54%) had been updated in the previous year. Few (77, 23%) were curated by "experts" but these included nine of the 11 with the most variants. Even fewer databases (41, 12%) included clinical features apart from the name of the associated disease. Most (223, 67%) could be accessed without charge, including those for 50 genes (40%) with the maximum number of variants. Future efforts should focus on encouraging experts to collaborate on a single database for each gene affected in inherited renal disease, including both unpublished variants, and clinical phenotypes.
Department of Medicine, The University of Melbourne (Northern Health Melbourne Health), Melbourne, Australia.
Judy
J
Savige
Hayat
H
Dagher
Sue
S
Povey
D030541:Databases, Genetic; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D020407:Internet; D007674:Kidney Diseases / Q000235:genetics*; D009154:Mutation; D064878:Web Browser
Alport syndrome; DNA variants; inherited kidney disease; mutation databases; polycystic kidney disease; tuberous sclerosis