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Expanding the Phenotype and Genetic Defects Associated with the GOSR 2 Gene
Author(s) -
Praschberger Roman,
Balint Bettina,
Mencacci Niccolo E.,
Hersheson Joshua,
RubioAgusti Ignacio,
Kullmann Dimitri M.,
Bettencourt Conceição,
Bhatia Kailash,
Houlden Henry
Publication year - 2015
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12190
Subject(s) - progressive myoclonus epilepsy , myoclonus , epilepsy , missense mutation , ataxia , medicine , allele , mutation , genotype , lafora disease , disease , genetics , gene , biology , psychiatry , phosphorylation , phosphatase
Background The homozygous missense mutation c.430G>T (p.G144W) in the GOSR 2 gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated GOSR 2 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 GOSR 2, SCARB 2 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_493del AGA (p.K164del) GOSR 2 mutation. This is so far the oldest GOSR 2 patient and her disease course seems overall milder. Conclusions This finding further highlights the GOSR 2 gene as a cause of progressive myoclonus epilepsy and expands the genotype for a potentially weaker disease allele.