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ea0039oc7.1 | Oral Communications 7 | BSPED2015

Wolfram syndrome: natural history and genotype-phenotype correlation based on EURO-WABB registry show gender differences in disease severity

Dias Renuka , Richens Caitlin , Astuti Dewi , Nightingale Peter , Ayme Segolene , Lopez de Heredia Miguel , Maffei Pietro , McCafferty Susan , Mlynarski Wojciech , Nunes Virginia , Parkinson Kay , Paquis-Flucklinge Veronique , Rohayem Julia , Sinnott Richard , Tillmann Vallo , Tranebjaerg Lisbeth , Barrett Timothy

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder, characterised by early-onset diabetes and optic atrophy. It is caused by mutations in WFS1.Objective and hypotheses: This study aimed to comprehensively review the natural history of WS in a large cohort of patients from the EURO-WABB registry.Method: Data from EURO-WABB patients with WS was analysed in conjunction with the Leiden Open Variation Data...

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Wolfram syndrome: natural history and genotype-phenotype correlation based on EURO-WABB registry show gender differences in disease severity

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