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A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
- Source :
-
American journal of human genetics [Am J Hum Genet] 2011 May 13; Vol. 88 (5), pp. 657-63. Date of Electronic Publication: 2011 May 05. - Publication Year :
- 2011
-
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.<br /> (Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Amino Acid Sequence
Child
Consanguinity
Female
Genes, Recessive
Genetic Markers
Golgi Apparatus genetics
Homozygote
Humans
Lod Score
Male
Molecular Sequence Data
Myoclonic Epilepsies, Progressive pathology
Pedigree
Phenotype
SNARE Proteins genetics
Spinocerebellar Degenerations pathology
Mutation
Myoclonic Epilepsies, Progressive genetics
Qb-SNARE Proteins genetics
Spinocerebellar Degenerations genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1537-6605
- Volume :
- 88
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 21549339
- Full Text :
- https://doi.org/10.1016/j.ajhg.2011.04.011