期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 88, 期 5, 页码 657-663出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2011.04.011
关键词
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资金
- National Health and Medical Research Council (NHMRC)
- Principal Research Fellowship
- Deutsche Forschungsgemeinschaft (DFG) [400121, GRK1459]
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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