title: A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
abstract: We report on a sibship in which three members were affected by Gaucher disease. Molecular analysis of the patients showed homozygosity for a novel mutation (C5390G) of the beta-glucocerebrosidase gene, resulting in the substitution of the arginine 353 with a glycine. Western blot analysis showed a reduced amount of beta-glucocerebrosidase-related polypeptides in fibroblasts. The phenotype resulting from this mutation is characterized by visceral and skeletal manifestations. In addition, the presence of seizures and electrophysiological abnormalities only in the 3 patients and in none of the other unaffected sibs suggests that the mutation is responsible for neurologic involvement.
authors.affiliation: Department of Pediatrics, Federico II University, Naples, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Parenti
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: L
authors.initials: L
authors.lastname: Titomanlio
authors.forename: G
authors.initials: G
authors.lastname: Rizzolo
authors.forename: E
authors.initials: E
authors.lastname: Silvestro
authors.forename: A
authors.initials: A
authors.lastname: Perretti
authors.forename: R
authors.initials: R
authors.lastname: Gatti
authors.forename: G
authors.initials: G
authors.lastname: Andria
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics; D015153:Blotting, Western; D002478:Cells, Cultured; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology* / Q000235:genetics* / Q000628:therapy; D005962:Glucosylceramidase / Q000235:genetics*; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D017422:Sequence Analysis, DNA
chemical_list: D001120:Arginine; D005962:Glucosylceramidase; D005998:Glycine