A novel <it>de novo </it>mutation in the serine-threonine kinase <it>STK11 </it>gene in a Korean patient with Peutz-Jeghers syndrome
<p>Abstract</p> <p>Background</p> <p>Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk of developing multi-org...
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| Format: | Article |
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BMC
2008-05-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/9/44 |
| _version_ | 1818777149114417152 |
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| author | Ki Chang-Seok Sun Young-Kyu Kang Jung-Gu Choi Yoon-Jung Yoo Jee-Hyoung Yoo Jong-Ha Lee Kyung-A Choi Jong-Rak |
| author_facet | Ki Chang-Seok Sun Young-Kyu Kang Jung-Gu Choi Yoon-Jung Yoo Jee-Hyoung Yoo Jong-Ha Lee Kyung-A Choi Jong-Rak |
| author_sort | Ki Chang-Seok |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk of developing multi-organ cancer, most frequently those involving the gastrointestinal tract. Germline mutation of the <it>STK11 </it>gene, which encodes a serine-threonine kinase, is responsible for PJS.</p> <p>Methods</p> <p>Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the <it>STK11 </it>gene using polymerase chain reaction (PCR) and direct sequencing.</p> <p>Results</p> <p>Sequencing of the <it>STK11 </it>gene in the proband of the family revealed a novel 1-base pair deletion of guanine (G) in exon 6 (c.826delG; Gly276AlafsX11). This mutation resulted in a premature termination at codon 286, predicting a partial loss of the kinase domain and complete loss of the C-terminal domain. We did not observe this mutation in both parents of the PJS patient. Therefore, it is considered a novel <it>de novo </it>mutation.</p> <p>Conclusion</p> <p>The results presented herein enlarge the spectrum of mutations of the <it>STK11 </it>gene by identifying a novel <it>de novo </it>mutation in a PJS patient and further support the hypothesis that <it>STK11 </it>mutations are disease-causing mutations for PJS with or without a positive family history.</p> |
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| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-18T11:24:14Z |
| publishDate | 2008-05-01 |
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| series | BMC Medical Genetics |
| spelling | doaj.art-be705d54060d4e6b91d25bae320b87132022-12-21T21:09:45ZengBMCBMC Medical Genetics1471-23502008-05-01914410.1186/1471-2350-9-44A novel <it>de novo </it>mutation in the serine-threonine kinase <it>STK11 </it>gene in a Korean patient with Peutz-Jeghers syndromeKi Chang-SeokSun Young-KyuKang Jung-GuChoi Yoon-JungYoo Jee-HyoungYoo Jong-HaLee Kyung-AChoi Jong-Rak<p>Abstract</p> <p>Background</p> <p>Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk of developing multi-organ cancer, most frequently those involving the gastrointestinal tract. Germline mutation of the <it>STK11 </it>gene, which encodes a serine-threonine kinase, is responsible for PJS.</p> <p>Methods</p> <p>Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the <it>STK11 </it>gene using polymerase chain reaction (PCR) and direct sequencing.</p> <p>Results</p> <p>Sequencing of the <it>STK11 </it>gene in the proband of the family revealed a novel 1-base pair deletion of guanine (G) in exon 6 (c.826delG; Gly276AlafsX11). This mutation resulted in a premature termination at codon 286, predicting a partial loss of the kinase domain and complete loss of the C-terminal domain. We did not observe this mutation in both parents of the PJS patient. Therefore, it is considered a novel <it>de novo </it>mutation.</p> <p>Conclusion</p> <p>The results presented herein enlarge the spectrum of mutations of the <it>STK11 </it>gene by identifying a novel <it>de novo </it>mutation in a PJS patient and further support the hypothesis that <it>STK11 </it>mutations are disease-causing mutations for PJS with or without a positive family history.</p>http://www.biomedcentral.com/1471-2350/9/44 |
| spellingShingle | Ki Chang-Seok Sun Young-Kyu Kang Jung-Gu Choi Yoon-Jung Yoo Jee-Hyoung Yoo Jong-Ha Lee Kyung-A Choi Jong-Rak A novel <it>de novo </it>mutation in the serine-threonine kinase <it>STK11 </it>gene in a Korean patient with Peutz-Jeghers syndrome BMC Medical Genetics |
| title | A novel <it>de novo </it>mutation in the serine-threonine kinase <it>STK11 </it>gene in a Korean patient with Peutz-Jeghers syndrome |
| title_full | A novel <it>de novo </it>mutation in the serine-threonine kinase <it>STK11 </it>gene in a Korean patient with Peutz-Jeghers syndrome |
| title_fullStr | A novel <it>de novo </it>mutation in the serine-threonine kinase <it>STK11 </it>gene in a Korean patient with Peutz-Jeghers syndrome |
| title_full_unstemmed | A novel <it>de novo </it>mutation in the serine-threonine kinase <it>STK11 </it>gene in a Korean patient with Peutz-Jeghers syndrome |
| title_short | A novel <it>de novo </it>mutation in the serine-threonine kinase <it>STK11 </it>gene in a Korean patient with Peutz-Jeghers syndrome |
| title_sort | novel it de novo it mutation in the serine threonine kinase it stk11 it gene in a korean patient with peutz jeghers syndrome |
| url | http://www.biomedcentral.com/1471-2350/9/44 |
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