First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.

Marina De Rosa, Ricardo J. Dourisboure, Gemma Morelli, Alfredo Graziano, Alejandro Gutiérrez, Stephen N Thibodeau, Kevin Halling, Karina Collia Avila, Francesca Duraturo, Ernesto J. Podesta, Paola Izzo, Angela R. Solano

Research output: Contribution to journalArticle

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Abstract

We examined the adenomatous polyposis coli (APC) gene for disease-causing mutations in 51 unrelated Argentinean probands affected by familial adenomatous polyposis (FAP). Using a combination of the protein truncation test, the single strand conformation polymorphism technique, DNA sequencing and quantitative PCR analysis, we identified the specific mutation in 39 (average age: 28.4 years) of the 51 probands (detection rate: 76.47%); 13 are novel germline mutations and one is a novel sequence variant. There were 27 small deletions, four small duplications, five nonsense mutations in exon 15, three nonsense mutations in exons 6, 11, and 12, and one sequence variant in exon 3 identified in a patient bearing a truncating mutation in exon 15. The most common mutation (found in 10 cases) was at codon 1309. All patients negative for APC mutations were also negative for the MutY homolog (MYH) gene mutation, as expected because of fully penetrant FAP cases. This study enlarges the spectrum of APC gene mutations, and reinforces the concept of mutation heterogeneity. It also sheds light on correlations between the site of APC germline mutations and the clinical manifestations of FAP. Our data indicate that the genotype/phenotype correlations in Argentinean patients are similar to those observed in other populations.

Original languageEnglish (US)
Pages (from-to)523-524
Number of pages2
JournalHuman Mutation
Volume23
Issue number5
StatePublished - May 2004
Externally publishedYes

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Adenomatous Polyposis Coli
Genotype
Mutation
Exons
APC Genes
Germ-Line Mutation
Nonsense Codon
Genetic Association Studies
DNA Sequence Analysis
Codon
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

De Rosa, M., Dourisboure, R. J., Morelli, G., Graziano, A., Gutiérrez, A., Thibodeau, S. N., ... Solano, A. R. (2004). First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations. Human Mutation, 23(5), 523-524.

First genotype characterization of Argentinean FAP patients : identification of 14 novel APC mutations. / De Rosa, Marina; Dourisboure, Ricardo J.; Morelli, Gemma; Graziano, Alfredo; Gutiérrez, Alejandro; Thibodeau, Stephen N; Halling, Kevin; Avila, Karina Collia; Duraturo, Francesca; Podesta, Ernesto J.; Izzo, Paola; Solano, Angela R.

In: Human Mutation, Vol. 23, No. 5, 05.2004, p. 523-524.

Research output: Contribution to journalArticle

De Rosa, M, Dourisboure, RJ, Morelli, G, Graziano, A, Gutiérrez, A, Thibodeau, SN, Halling, K, Avila, KC, Duraturo, F, Podesta, EJ, Izzo, P & Solano, AR 2004, 'First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.', Human Mutation, vol. 23, no. 5, pp. 523-524.
De Rosa M, Dourisboure RJ, Morelli G, Graziano A, Gutiérrez A, Thibodeau SN et al. First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations. Human Mutation. 2004 May;23(5):523-524.
De Rosa, Marina ; Dourisboure, Ricardo J. ; Morelli, Gemma ; Graziano, Alfredo ; Gutiérrez, Alejandro ; Thibodeau, Stephen N ; Halling, Kevin ; Avila, Karina Collia ; Duraturo, Francesca ; Podesta, Ernesto J. ; Izzo, Paola ; Solano, Angela R. / First genotype characterization of Argentinean FAP patients : identification of 14 novel APC mutations. In: Human Mutation. 2004 ; Vol. 23, No. 5. pp. 523-524.
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