A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

Corbett, Mark A., Schwake, Michael, Bahlo, Melanie, Dibbens, Leanne M., Lin, Meng, Gandolfo, Luke C., Vears, Danya F., O'Sullivan, John D., Robertson, Thomas, Bayly, Marta A., Gardner, Alison E., Vlaar, Annemarie M., Korenke, G. Christoph, Bloem, Bastiaan R., de Coo, Irenaeus F., Verhagen, Judith M. A., Lehesjoki, Anna-Elina, Gecz, Jozef and Berkovic, Samuel F. (2011) A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. American Journal of Human Genetics, 88 5: 657-663. doi:10.1016/j.ajhg.2011.04.011

Author Corbett, Mark A.
Schwake, Michael
Bahlo, Melanie
Dibbens, Leanne M.
Lin, Meng
Gandolfo, Luke C.
Vears, Danya F.
O'Sullivan, John D.
Robertson, Thomas
Bayly, Marta A.
Gardner, Alison E.
Vlaar, Annemarie M.
Korenke, G. Christoph
Bloem, Bastiaan R.
de Coo, Irenaeus F.
Verhagen, Judith M. A.
Lehesjoki, Anna-Elina
Gecz, Jozef
Berkovic, Samuel F.
Title A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Journal name American Journal of Human Genetics   Check publisher's open access policy
ISSN 0002-9297
Publication date 2011-05-13
Year available 2011
Sub-type Article (original research)
DOI 10.1016/j.ajhg.2011.04.011
Open Access Status Not Open Access
Volume 88
Issue 5
Start page 657
End page 663
Total pages 7
Place of publication Cambridge, United States
Publisher Cell Press
Language eng
Formatted 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.
Keyword Genetics & Heredity
Genetics & Heredity
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID 400121
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
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