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Mutations in STK11 gene in Czech Peutz-Jeghers patients

BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disease characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis. The germline mutations in the serine/threonine kinase 11 (STK11) gene have been shown to be associated with the disease. Indi...

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Autores principales: Vasovčák, Peter, Puchmajerová, Alena, Roubalík, Jan, Křepelová, Anna
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726128/
https://www.ncbi.nlm.nih.gov/pubmed/19615099
http://dx.doi.org/10.1186/1471-2350-10-69
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author Vasovčák, Peter
Puchmajerová, Alena
Roubalík, Jan
Křepelová, Anna
author_facet Vasovčák, Peter
Puchmajerová, Alena
Roubalík, Jan
Křepelová, Anna
author_sort Vasovčák, Peter
collection PubMed
description BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disease characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis. The germline mutations in the serine/threonine kinase 11 (STK11) gene have been shown to be associated with the disease. Individuals with PJS are at increased risk for development of various neoplasms. The aim of the present study was to characterize the genotype and phenotype of Czech patients with PJS. METHODS: We examined genomic DNA of 8 individuals from five Czech families by sequencing analysis of STK11 gene, covering its promotor region, the entire coding region and the splice-site boundaries, and by multiplex ligation-dependent probe amplification (MLPA) assay designed for the identification of large exonic deletions or duplications of STK11 gene. RESULTS: We found pathogenic mutations in STK11 gene in two families fulfilling the diagnostic criteria of PJS and in one of three sporadic cases not complying with the criteria. The patient with the frameshift mutation in STK11 gene developed aggressive gastric cancer. No other studied proband has developed a carcinoma so far. CONCLUSION: Our results showed that a germline mutation of STK11 gene can be found not only in probands fulfilling the PJS diagnostic criteria, but also in some sporadic cases not complying with the criteria. Moreover, we observed a new case of aggressive gastric cancer in a young patient with a frameshift mutation of STK11 gene.
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spelling pubmed-27261282009-08-13 Mutations in STK11 gene in Czech Peutz-Jeghers patients Vasovčák, Peter Puchmajerová, Alena Roubalík, Jan Křepelová, Anna BMC Med Genet Research Article BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disease characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis. The germline mutations in the serine/threonine kinase 11 (STK11) gene have been shown to be associated with the disease. Individuals with PJS are at increased risk for development of various neoplasms. The aim of the present study was to characterize the genotype and phenotype of Czech patients with PJS. METHODS: We examined genomic DNA of 8 individuals from five Czech families by sequencing analysis of STK11 gene, covering its promotor region, the entire coding region and the splice-site boundaries, and by multiplex ligation-dependent probe amplification (MLPA) assay designed for the identification of large exonic deletions or duplications of STK11 gene. RESULTS: We found pathogenic mutations in STK11 gene in two families fulfilling the diagnostic criteria of PJS and in one of three sporadic cases not complying with the criteria. The patient with the frameshift mutation in STK11 gene developed aggressive gastric cancer. No other studied proband has developed a carcinoma so far. CONCLUSION: Our results showed that a germline mutation of STK11 gene can be found not only in probands fulfilling the PJS diagnostic criteria, but also in some sporadic cases not complying with the criteria. Moreover, we observed a new case of aggressive gastric cancer in a young patient with a frameshift mutation of STK11 gene. BioMed Central 2009-07-19 /pmc/articles/PMC2726128/ /pubmed/19615099 http://dx.doi.org/10.1186/1471-2350-10-69 Text en Copyright © 2009 Vasovčák et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Vasovčák, Peter
Puchmajerová, Alena
Roubalík, Jan
Křepelová, Anna
Mutations in STK11 gene in Czech Peutz-Jeghers patients
title Mutations in STK11 gene in Czech Peutz-Jeghers patients
title_full Mutations in STK11 gene in Czech Peutz-Jeghers patients
title_fullStr Mutations in STK11 gene in Czech Peutz-Jeghers patients
title_full_unstemmed Mutations in STK11 gene in Czech Peutz-Jeghers patients
title_short Mutations in STK11 gene in Czech Peutz-Jeghers patients
title_sort mutations in stk11 gene in czech peutz-jeghers patients
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726128/
https://www.ncbi.nlm.nih.gov/pubmed/19615099
http://dx.doi.org/10.1186/1471-2350-10-69
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