Tags

Type your tag names separated by a space and hit enter

First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.
Hum Mutat. 2004 May; 23(5):523-4.HM

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.

Authors+Show Affiliations

Dipartimento di Biochimica e Biotecnologie Mediche, Unversità di Napoli Federico II, Naples, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15108288

Citation

De Rosa, Marina, et al. "First Genotype Characterization of Argentinean FAP Patients: Identification of 14 Novel APC Mutations." Human Mutation, vol. 23, no. 5, 2004, pp. 523-4.
De Rosa M, Dourisboure RJ, Morelli G, et al. First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations. Hum Mutat. 2004;23(5):523-4.
De Rosa, M., Dourisboure, R. J., Morelli, G., Graziano, A., Gutiérrez, A., Thibodeau, S., Halling, K., Avila, K. C., Duraturo, F., Podesta, E. J., Izzo, P., & Solano, A. R. (2004). First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations. Human Mutation, 23(5), 523-4.
De Rosa M, et al. First Genotype Characterization of Argentinean FAP Patients: Identification of 14 Novel APC Mutations. Hum Mutat. 2004;23(5):523-4. PubMed PMID: 15108288.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations. AU - De Rosa,Marina, AU - Dourisboure,Ricardo J, AU - Morelli,Gemma, AU - Graziano,Alfredo, AU - Gutiérrez,Alejandro, AU - Thibodeau,Stephen, AU - Halling,Kevin, AU - Avila,Karina Collia, AU - Duraturo,Francesca, AU - Podesta,Ernesto J, AU - Izzo,Paola, AU - Solano,Angela R, PY - 2004/4/27/pubmed PY - 2004/9/21/medline PY - 2004/4/27/entrez SP - 523 EP - 4 JF - Human mutation JO - Hum. Mutat. VL - 23 IS - 5 N2 - 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. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/15108288/First_genotype_characterization_of_Argentinean_FAP_patients:_identification_of_14_novel_APC_mutations_ L2 - https://doi.org/10.1002/humu.9237 DB - PRIME DP - Unbound Medicine ER -