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

Am J Hum Genet. 2011 May 13;88(5):657-63. doi: 10.1016/j.ajhg.2011.04.011.

Mark A Corbett ¹, 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, Samuel F Berkovic

Affiliations

Affiliation

1 Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.

PMID: 21549339 DOI: 10.1016/j.ajhg.2011.04.011

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.

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