A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Am J Hum Genet
; 88(5): 657-63, 2011 May 13.
Article
in En
| MEDLINE
| ID: mdl-21549339
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spinocerebellar Degenerations
/
Myoclonic Epilepsies, Progressive
/
Qb-SNARE Proteins
/
Mutation
Type of study:
Etiology_studies
Limits:
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Hum Genet
Year:
2011
Document type:
Article
Affiliation country:
Australia