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 β-glucocerebrosidase gene, resulting in the substitution of the arginine 353 with a glycine. Western blot analysis showed a reduced amount of β-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.
| Original language | English |
|---|---|
| Pages (from-to) | 281-285 |
| Number of pages | 5 |
| Journal | Clinical Genetics |
| Volume | 53 |
| Issue number | 4 |
| Publication status | Published - Apr 1998 |
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Keywords
- β-glucocerebrosidase
- Gaucher disease
- Neurological involvement
- New mutation
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs. / Parenti, Giancarlo; Filocamo, Mirella; Titomanlio, Luigi; Rizzolo, Grazia; Silvestro, Eufrasia; Perretti, Anna; Gatti, Rosanna; Andria, Generoso.
In: Clinical Genetics, Vol. 53, No. 4, 04.1998, p. 281-285.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs
AU - Parenti, Giancarlo
AU - Filocamo, Mirella
AU - Titomanlio, Luigi
AU - Rizzolo, Grazia
AU - Silvestro, Eufrasia
AU - Perretti, Anna
AU - Gatti, Rosanna
AU - Andria, Generoso
PY - 1998/4
Y1 - 1998/4
N2 - 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 β-glucocerebrosidase gene, resulting in the substitution of the arginine 353 with a glycine. Western blot analysis showed a reduced amount of β-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.
AB - 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 β-glucocerebrosidase gene, resulting in the substitution of the arginine 353 with a glycine. Western blot analysis showed a reduced amount of β-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.
KW - β-glucocerebrosidase
KW - Gaucher disease
KW - Neurological involvement
KW - New mutation
UR - http://www.scopus.com/inward/record.url?scp=0031970650&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031970650&partnerID=8YFLogxK
M3 - Article
C2 - 9650766
AN - SCOPUS:0031970650
VL - 53
SP - 281
EP - 285
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 4
ER -