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

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, Samuel F. Berkovic

Research output: Contribution to journalArticle

70 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)657-663
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number5
Publication statusPublished - 13 May 2011
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Corbett, M. A., Schwake, M., Bahlo, M., Dibbens, L. M., Lin, M., Gandolfo, L. C., ... Berkovic, S. 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. https://doi.org/10.1016/j.ajhg.2011.04.011