A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients
<p>Abstract</p> <p>Background</p> <p>Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips, and an increased risk of developing cancer.</p> <p>M...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-12-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/12/161 |
| _version_ | 1818901481003155456 |
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| author | Wang Zhiqing Chen Yulan Wu Baoping Zheng Haoxuan He Jiman Jiang Bo |
| author_facet | Wang Zhiqing Chen Yulan Wu Baoping Zheng Haoxuan He Jiman Jiang Bo |
| author_sort | Wang Zhiqing |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips, and an increased risk of developing cancer.</p> <p>Methods</p> <p>Blood samples were collected from two unrelated Chinese PJS families totaling 20 individuals (9 male and 11 females), including 6 PJS patients. The entire coding region of the STK11 gene was amplified by polymerase chain reaction and analyzed by direct sequencing.</p> <p>Results</p> <p>A novel mutation, c.904C > T, in exon 7 was identified in both families. A C > T substitution changed codon 302 from CAG (glutamine) to TAG (stop), truncating the STK11 protein, thus leading to the partial loss of the kinase domain and complete loss of the α-helix C-terminus. Furthermore, one PJS patient from each family was diagnosed with a visceral cancer, a colon cancer and a liver cancer respectively.</p> <p>Conclusion</p> <p>We predict that this novel mutation, p.Q302X, is most likely responsible for development of the PJS phenotype and may even contribute to malignancy.</p> |
| first_indexed | 2024-12-19T20:20:26Z |
| format | Article |
| id | doaj.art-9a833b0ac4fa475ab48f474167f516a3 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-19T20:20:26Z |
| publishDate | 2011-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-9a833b0ac4fa475ab48f474167f516a32022-12-21T20:07:02ZengBMCBMC Medical Genetics1471-23502011-12-0112116110.1186/1471-2350-12-161A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patientsWang ZhiqingChen YulanWu BaopingZheng HaoxuanHe JimanJiang Bo<p>Abstract</p> <p>Background</p> <p>Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips, and an increased risk of developing cancer.</p> <p>Methods</p> <p>Blood samples were collected from two unrelated Chinese PJS families totaling 20 individuals (9 male and 11 females), including 6 PJS patients. The entire coding region of the STK11 gene was amplified by polymerase chain reaction and analyzed by direct sequencing.</p> <p>Results</p> <p>A novel mutation, c.904C > T, in exon 7 was identified in both families. A C > T substitution changed codon 302 from CAG (glutamine) to TAG (stop), truncating the STK11 protein, thus leading to the partial loss of the kinase domain and complete loss of the α-helix C-terminus. Furthermore, one PJS patient from each family was diagnosed with a visceral cancer, a colon cancer and a liver cancer respectively.</p> <p>Conclusion</p> <p>We predict that this novel mutation, p.Q302X, is most likely responsible for development of the PJS phenotype and may even contribute to malignancy.</p>http://www.biomedcentral.com/1471-2350/12/161 |
| spellingShingle | Wang Zhiqing Chen Yulan Wu Baoping Zheng Haoxuan He Jiman Jiang Bo A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients BMC Medical Genetics |
| title | A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients |
| title_full | A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients |
| title_fullStr | A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients |
| title_full_unstemmed | A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients |
| title_short | A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients |
| title_sort | novel mutation in stk11 gene is associated with peutz jeghers syndrome in chinese patients |
| url | http://www.biomedcentral.com/1471-2350/12/161 |
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