American journal of human genetics · 2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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.