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https://hdl.handle.net/2440/66479
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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 1537-6605 |
Statement of Responsibility: | 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 Humans Spinocerebellar Degenerations Myoclonic Epilepsies, Progressive Genetic Markers Pedigree Consanguinity Amino Acid Sequence Homozygote Genes, Recessive Lod Score Phenotype Mutation Molecular Sequence Data Child Female Male 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 |
Published version: | http://dx.doi.org/10.1016/j.ajhg.2011.04.011 |
Appears in Collections: | Aurora harvest Molecular and Biomedical Science publications |
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