Journal article
Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
RR Maas, K Iwanicka-Pronicka, S Kalkan Ucar, B Alhaddad, M AlSayed, MA Al-Owain, HI Al-Zaidan, S Balasubramaniam, I Barić, DK Bubshait, A Burlina, J Christodoulou, WK Chung, R Colombo, N Darin, P Freisinger, MT Garcia Silva, S Grunewald, TB Haack, PM van Hasselt Show all
Annals of Neurology | WILEY | Published : 2017
DOI: 10.1002/ana.25110
Abstract
Objective: 3-Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. Methods: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. Results: Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days–33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype a..
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Awarded by Else Kröner-Fresenius-Stiftung
Funding Acknowledgements
M.S. was supported by the Else Kroner-Fresenius Stiftung" This study was supported by the German Bundesministerium fur Bildung und Forschung (BMBF) and Horizon2020 through the E-Rare project GENOMIT (01GM1603 and 01GM1207 for HP and FWF I 2741-B26 for J.A.M. J.A.M., S.B.W., W.S. were supported by the Vereinigung zur Forderung Padiatrischer Forschung und Fortbildung Salzburg. R.W.T. was supported by the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), the Medical Research Council (MRC) Centre for Translational Research in Neuromuscular Disease, Mitochondrial Disease Patient Cohort (UK) (G0800674), the Lily Foundation and the UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children.