A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
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.
Parenti
G
G
Department of Pediatrics, Federico II University, Naples, Italy.
Filocamo
M
M
Titomanlio
L
L
Rizzolo
G
G
Silvestro
E
E
Perretti
A
A
Gatti
R
R
Andria
G
G
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
D001120:Arginine; D005962:Glucosylceramidase; D005998:Glycine