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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 languageEnglish
Pages (from-to)281-285
Number of pages5
JournalClinical Genetics
Volume53
Issue number4
Publication statusPublished - Apr 1998

Fingerprint

Neurologic Manifestations
Glucosylceramidase
Mutation
Genes
Gaucher Disease
Glycine
Nervous System
Arginine
Seizures
Fibroblasts
Western Blotting
Phenotype
Peptides

Keywords

  • β-glucocerebrosidase
  • Gaucher disease
  • Neurological involvement
  • New mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Parenti, G., Filocamo, M., Titomanlio, L., Rizzolo, G., Silvestro, E., Perretti, A., ... Andria, G. (1998). A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs. Clinical Genetics, 53(4), 281-285.

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 journalArticle

Parenti, G, Filocamo, M, Titomanlio, L, Rizzolo, G, Silvestro, E, Perretti, A, Gatti, R & Andria, G 1998, 'A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs', Clinical Genetics, vol. 53, no. 4, pp. 281-285.
Parenti G, Filocamo M, Titomanlio L, Rizzolo G, Silvestro E, Perretti A et al. A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs. Clinical Genetics. 1998 Apr;53(4):281-285.
Parenti, Giancarlo ; Filocamo, Mirella ; Titomanlio, Luigi ; Rizzolo, Grazia ; Silvestro, Eufrasia ; Perretti, Anna ; Gatti, Rosanna ; Andria, Generoso. / A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs. In: Clinical Genetics. 1998 ; Vol. 53, No. 4. pp. 281-285.
@article{326b306801bc453982081745ea75cbcb,
title = "A novel mutation of the β-glucocererebrosidase 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 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.",
keywords = "β-glucocerebrosidase, Gaucher disease, Neurological involvement, New mutation",
author = "Giancarlo Parenti and Mirella Filocamo and Luigi Titomanlio and Grazia Rizzolo and Eufrasia Silvestro and Anna Perretti and Rosanna Gatti and Generoso Andria",
year = "1998",
month = "4",
language = "English",
volume = "53",
pages = "281--285",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "4",

}

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 -