Dataset Information
Expanding the Phenotype and Genetic Defects Associated with the <i>GOSR2</i> Gene.
Ontology highlight
ABSTRACT: Background
The homozygous missense mutation c.430G>T (p.G144W) in the GOSR2 gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated GOSR2 mutation has been reported.Methods
From epilepsy, movement disorder and genetic clinics 43 patients suffering from progressive myoclonus epilepsy/ataxia were screened for defects in GOSR2, SCARB2 and CSTB.Results
A 61-year-old female patient suffering from progressive myoclonus epilepsy was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) GOSR2 mutation. This is so far the oldest GOSR2 patient and her disease course seems overall milder.Conclusions
This finding further highlights the GOSR2 gene as a cause of progressive myoclonus epilepsy and expands the genotype for a potentially weaker disease allele.
SUBMITTER: Praschberger R
PROVIDER: S-EPMC6178697 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Publications
Expanding the Phenotype and Genetic Defects Associated with the <i>GOSR2</i> Gene.
Movement disorders clinical practice 20150617 3
<h4>Background</h4>The homozygous missense mutation c.430G>T (p.G144W) in the <i>GOSR2</i> gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated <i>GOSR2</i> mutation has been reported.<h4>Methods</h4>From epilepsy, movement disorder and genetic clinics 43 patients suffering from progressive myoclonus epilepsy/ataxia were screened for defects in <i>GOSR2, SCARB2</i> and <i>CSTB</i>.<h4>Results</h4>A 61-year-old female patient sufferi ...[more]