Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type 1

Christiane Busquets; Mercedes Soriano; Isabel Tavares De Almeida; Barbara Garavaglia; Marco Rimoldi; Isabel Rivera; Graziella Uziel; Aguinaldo Cabral; M. Josep Coll; Antonia Ribes

doi:10.1006/mgme.2000.3082

Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type 1

Christiane Busquets, Mercedes Soriano, Isabel Tavares De Almeida, Barbara Garavaglia, Marco Rimoldi, Isabel Rivera, Graziella Uziel, Aguinaldo Cabral, M. Josep Coll, Antonia Ribes

Fondazione IRCCS Istituto Neurologico "C. Besta"

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

Abstract

Two novel (G390V and X439W) and five already known mutations were identified in a total of 14 GA I alleles from Italy and Portugal. The substitution X439W is a rare type of mutation, which breaks the stop codon of the GCDH gene. As described in other populations, R402W was the most common mutation. Genotype R227P/R402W was found in a patient with low glutarate excretion. Haplotype studies have also been performed. (C) 2000 Academic Press.

Original language	English
Pages (from-to)	535-537
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	71
Issue number	3
DOIs	https://doi.org/10.1006/mgme.2000.3082
Publication status	Published - 2000

Keywords

GCDH mutations
Glutaric aciduria type I
Glutaryl-CoA dehydrogenase
RFLP haplotypes

ASJC Scopus subject areas

Biochemistry
Genetics
Endocrinology, Diabetes and Metabolism

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10.1006/mgme.2000.3082

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Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type 1. / Busquets, Christiane; Soriano, Mercedes; De Almeida, Isabel Tavares; Garavaglia, Barbara; Rimoldi, Marco; Rivera, Isabel; Uziel, Graziella; Cabral, Aguinaldo; Coll, M. Josep; Ribes, Antonia.

In: Molecular Genetics and Metabolism, Vol. 71, No. 3, 2000, p. 535-537.

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

Busquets, Christiane ; Soriano, Mercedes ; De Almeida, Isabel Tavares ; Garavaglia, Barbara ; Rimoldi, Marco ; Rivera, Isabel ; Uziel, Graziella ; Cabral, Aguinaldo ; Coll, M. Josep ; Ribes, Antonia. / Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type 1. In: Molecular Genetics and Metabolism. 2000 ; Vol. 71, No. 3. pp. 535-537.

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abstract = "Two novel (G390V and X439W) and five already known mutations were identified in a total of 14 GA I alleles from Italy and Portugal. The substitution X439W is a rare type of mutation, which breaks the stop codon of the GCDH gene. As described in other populations, R402W was the most common mutation. Genotype R227P/R402W was found in a patient with low glutarate excretion. Haplotype studies have also been performed. (C) 2000 Academic Press.",

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AU - Rimoldi, Marco

AU - Rivera, Isabel

AU - Uziel, Graziella

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AU - Ribes, Antonia

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KW - Glutaryl-CoA dehydrogenase

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