Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
A deficiency of human LIMP-2, a receptor for lysosomal mannose 6-phosphate-independent targeting of the beta-glucosidase (betaGC), due to mutations in the SCARB2 gene was described only in six families presented with progressive myoclonic epilepsy and nephrotic syndrome. In one of them a mistarget of the betaGC was demonstrated. We report here the biochemical and molecular findings in a patient diagnosed with progressive myoclonic epilepsy due to a mistarget of the betaGC, probably caused by a LIMP-2 deficiency, providing valuable information for the diagnosis of this rare disorder.
Dardis
Andrea
A
Regional Coordination Centre for Rare Diseases, University Hospital S. Maria della Misericordia, Piazzale Santa Maria della, 33100 Udine, Italy.
Filocamo
Mirella
M
Grossi
Serena
S
Ciana
Giovanni
G
Franceschetti
Silvana
S
Dominissini
Silvia
S
Rubboli
Guido
G
Di Rocco
Maya
M
Bembi
Bruno
B
D000328:Adult; D005260:Female; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics*; D051116:Receptors, Scavenger / Q000235:genetics*; D001617:beta-Glucosidase / Q000235:genetics*
D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human; D001617:beta-Glucosidase