2011-05-13
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Publication
Publication
American Journal of Human Genetics , Volume 88 - Issue 5 p. 657- 663
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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| doi.org/10.1016/j.ajhg.2011.04.011, hdl.handle.net/1765/33438 | |
| American Journal of Human Genetics | |
| Organisation | Erasmus MC: University Medical Center Rotterdam |
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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, C., Bloem, B., de Coo, R., Verhagen, J., Lehesjoki, A.-E., Gecz, J.& Berkovic, S. (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 |
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