Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/66479
Citations
Scopus Web of Science® Altmetric
?
?
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
Appears in Collections:Aurora harvest
Molecular and Biomedical Science publications

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.