Journal article
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia
D Astuti, A Sabir, P Fulton, M Zatyka, D Williams, C Hardy, G Milan, F Favaretto, P Yu-Wai-Man, J Rohayem, M López de Heredia, T Hershey, L Tranebjaerg, JH Chen, A Chaussenot, V Nunes, B Marshall, S McAfferty, V Tillmann, P Maffei Show all
Human Mutation | WILEY | Published : 2017
DOI: 10.1002/humu.23233
Open access
Abstract
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine-responsive megaloblastic anemia syndromes, respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1. We then investigated genotype–phenotype relations for the WFS1 gene. The presence of biallelic loss-of-function variants predicted Wolfram syndrome defined b..
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Awarded by Medical Research Council
Funding Acknowledgements
Contract grant sponsor: Wellcome Trust (WT098498); European Union (DG-SANCO Grant Agreement 2010 12 05)