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Type: Journal article
Title: A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Author: Corbett, M.
Schwake, M.
Bahlo, M.
Dibbens, L.
Lin, M.
Gandolfo, L.
Vears, D.
O'Sullivan, J.
Robertson, T.
Bayly, M.
Gardner, A.
Vlaar, A.
Korenke, G.
Bloem, B.
de Coo, I.
Verhagen, J.
Lehesjoki, A.
Gecz, J.
Berkovic, S.
Citation: American Journal of Human Genetics, 2011; 88(5):657-663
Publisher: Univ Chicago Press
Issue Date: 2011
ISSN: 0002-9297
Statement of
Mark A. Corbett, Michael Schwake, Melanie Bahlo, Leanne M. Dibbens, Meng Lin, Luke C. Gandolfo, Danya F. Vears, John D. O’Sullivan, Thomas Robertson, Marta A. Bayly, Alison E. Gardner, Annemarie M. Vlaar, G. Christoph Korenke, Bastiaan R. Bloem, Irenaeus F. de Coo, Judith M.A. Verhagen, Anna-Elina Lehesjoki, Jozef Gecz and Samuel F. Berkovic
Abstract: The progressive myoclonus epilepsies (PMEs) are a group of predominantly recessive disorders that present with action myoclonus, tonic-clonic seizures, and progressive neurological decline. Many PMEs have similar clinical presentations yet are genetically heterogeneous, making accurate diagnosis difficult. A locus for PME was mapped in a consanguineous family with a single affected individual to chromosome 17q21. An identical-by-descent, homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport gene, was identified in this patient and in four apparently unrelated individuals. A comparison of the phenotypes in these patients defined a clinically distinct PME syndrome characterized by early-onset ataxia, action myoclonus by age 6, scoliosis, and mildly elevated serum creatine kinase. This p.Gly144Trp mutation is equivalent to a loss of function and results in failure of GOSR2 protein to localize to the cis-Golgi.
Keywords: Golgi Apparatus
Spinocerebellar Degenerations
Myoclonic Epilepsies, Progressive
Genetic Markers
Amino Acid Sequence
Genes, Recessive
Lod Score
Molecular Sequence Data
SNARE Proteins
Qb-SNARE Proteins
Rights: Copyright 2011 The American Society of Human Genetics All rights reserved.
DOI: 10.1016/j.ajhg.2011.04.011
Appears in Collections:Aurora harvest
Molecular and Biomedical Science publications

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