A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs

Giancarlo Parenti; Mirella Filocamo; Luigi Titomanlio; Grazia Rizzolo; Eufrasia Silvestro; Anna Perretti; Rosanna Gatti; Generoso Andria

A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs

Giancarlo Parenti, Mirella Filocamo, Luigi Titomanlio, Grazia Rizzolo, Eufrasia Silvestro, Anna Perretti, Rosanna Gatti, Generoso Andria

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

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

Keywords

β-glucocerebrosidase
Gaucher disease
Neurological involvement
New mutation

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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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 › peer-review

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AU - Parenti, Giancarlo

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AU - Silvestro, Eufrasia

AU - Perretti, Anna

AU - Gatti, Rosanna

AU - Andria, Generoso

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