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

62 Citations (Scopus)

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.

LanguageEnglish
Pages657-663
Number of pages7
JournalAmerican Journal of Human Genetics
Volume88
Issue number5
DOIs
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
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. / A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. In: American Journal of Human Genetics. 2011 ; Vol. 88, No. 5. pp. 657-663.
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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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Corbett, MA, Schwake, M, Bahlo, M, Dibbens, LM, Lin, M, Gandolfo, LC, Vears, DF, O'Sullivan, JD, Robertson, T, Bayly, MA, Gardner, AE, Vlaar, AM, Korenke, GC, Bloem, BR, De Coo, IF, Verhagen, JMA, Lehesjoki, AE, Gecz, J & Berkovic, SF 2011, 'A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia', American Journal of Human Genetics, vol. 88, no. 5, pp. 657-663. https://doi.org/10.1016/j.ajhg.2011.04.011

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; Berkovic, Samuel F.

In: American Journal of Human Genetics, Vol. 88, No. 5, 13.05.2011, p. 657-663.

Research output: Contribution to journalArticle

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T1 - A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

AU - Corbett, Mark A.

AU - Schwake, Michael

AU - Bahlo, Melanie

AU - Dibbens, Leanne M.

AU - Lin, Meng

AU - Gandolfo, Luke C.

AU - Vears, Danya F.

AU - O'Sullivan, John D.

AU - Robertson, Thomas

AU - Bayly, Marta A.

AU - Gardner, Alison E.

AU - Vlaar, Annemarie M.

AU - Korenke, G. Christoph

AU - Bloem, Bastiaan R.

AU - De Coo, Irenaeus F.

AU - Verhagen, Judith M.A.

AU - Lehesjoki, Anna Elina

AU - Gecz, Jozef

AU - Berkovic, Samuel F.

PY - 2011/5/13

Y1 - 2011/5/13

N2 - 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.

AB - 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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