Mutations in <it>STK11 </it>gene in Czech Peutz-Jeghers patients
<p>Abstract</p> <p>Background</p> <p>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 (<it>ST...
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| Format: | Article |
| Language: | English |
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BMC
2009-07-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/10/69 |
| _version_ | 1818901409997783040 |
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| author | Křepelová Anna Roubalík Jan Puchmajerová Alena Vasovčák Peter |
| author_facet | Křepelová Anna Roubalík Jan Puchmajerová Alena Vasovčák Peter |
| author_sort | Křepelová Anna |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>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 (<it>STK11</it>) 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.</p> <p>Methods</p> <p>We examined genomic DNA of 8 individuals from five Czech families by sequencing analysis of <it>STK11 </it>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 <it>STK11 </it>gene.</p> <p>Results</p> <p>We found pathogenic mutations in <it>STK11 </it>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 <it>STK11 </it>gene developed aggressive gastric cancer. No other studied proband has developed a carcinoma so far.</p> <p>Conclusion</p> <p>Our results showed that a germline mutation of <it>STK11 </it>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 <it>STK11 </it>gene.</p> |
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| format | Article |
| id | doaj.art-6bfa682bec4e45348fc9cde5fe3ddb40 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-19T20:19:18Z |
| publishDate | 2009-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-6bfa682bec4e45348fc9cde5fe3ddb402022-12-21T20:07:03ZengBMCBMC Medical Genetics1471-23502009-07-011016910.1186/1471-2350-10-69Mutations in <it>STK11 </it>gene in Czech Peutz-Jeghers patientsKřepelová AnnaRoubalík JanPuchmajerová AlenaVasovčák Peter<p>Abstract</p> <p>Background</p> <p>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 (<it>STK11</it>) 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.</p> <p>Methods</p> <p>We examined genomic DNA of 8 individuals from five Czech families by sequencing analysis of <it>STK11 </it>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 <it>STK11 </it>gene.</p> <p>Results</p> <p>We found pathogenic mutations in <it>STK11 </it>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 <it>STK11 </it>gene developed aggressive gastric cancer. No other studied proband has developed a carcinoma so far.</p> <p>Conclusion</p> <p>Our results showed that a germline mutation of <it>STK11 </it>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 <it>STK11 </it>gene.</p>http://www.biomedcentral.com/1471-2350/10/69 |
| spellingShingle | Křepelová Anna Roubalík Jan Puchmajerová Alena Vasovčák Peter Mutations in <it>STK11 </it>gene in Czech Peutz-Jeghers patients BMC Medical Genetics |
| title | Mutations in <it>STK11 </it>gene in Czech Peutz-Jeghers patients |
| title_full | Mutations in <it>STK11 </it>gene in Czech Peutz-Jeghers patients |
| title_fullStr | Mutations in <it>STK11 </it>gene in Czech Peutz-Jeghers patients |
| title_full_unstemmed | Mutations in <it>STK11 </it>gene in Czech Peutz-Jeghers patients |
| title_short | Mutations in <it>STK11 </it>gene in Czech Peutz-Jeghers patients |
| title_sort | mutations in it stk11 it gene in czech peutz jeghers patients |
| url | http://www.biomedcentral.com/1471-2350/10/69 |
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