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A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome

BACKGROUND: 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 gastroin...

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Autores principales: Yoo, Jong-Ha, Yoo, Jee-Hyoung, Choi, Yoon-Jung, Kang, Jung-Gu, Sun, Young-Kyu, Ki, Chang-Seok, Lee, Kyung-A, Choi, Jong-Rak
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430547/
https://www.ncbi.nlm.nih.gov/pubmed/18495044
http://dx.doi.org/10.1186/1471-2350-9-44
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author Yoo, Jong-Ha
Yoo, Jee-Hyoung
Choi, Yoon-Jung
Kang, Jung-Gu
Sun, Young-Kyu
Ki, Chang-Seok
Lee, Kyung-A
Choi, Jong-Rak
author_facet Yoo, Jong-Ha
Yoo, Jee-Hyoung
Choi, Yoon-Jung
Kang, Jung-Gu
Sun, Young-Kyu
Ki, Chang-Seok
Lee, Kyung-A
Choi, Jong-Rak
author_sort Yoo, Jong-Ha
collection PubMed
description BACKGROUND: 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 STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. METHODS: Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the STK11 gene using polymerase chain reaction (PCR) and direct sequencing. RESULTS: Sequencing of the STK11 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 de novo mutation. CONCLUSION: The results presented herein enlarge the spectrum of mutations of the STK11 gene by identifying a novel de novo mutation in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS with or without a positive family history.
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spelling pubmed-24305472008-06-18 A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome Yoo, Jong-Ha Yoo, Jee-Hyoung Choi, Yoon-Jung Kang, Jung-Gu Sun, Young-Kyu Ki, Chang-Seok Lee, Kyung-A Choi, Jong-Rak BMC Med Genet Research Article BACKGROUND: 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 STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. METHODS: Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the STK11 gene using polymerase chain reaction (PCR) and direct sequencing. RESULTS: Sequencing of the STK11 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 de novo mutation. CONCLUSION: The results presented herein enlarge the spectrum of mutations of the STK11 gene by identifying a novel de novo mutation in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS with or without a positive family history. BioMed Central 2008-05-22 /pmc/articles/PMC2430547/ /pubmed/18495044 http://dx.doi.org/10.1186/1471-2350-9-44 Text en Copyright © 2008 Yoo 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
Yoo, Jong-Ha
Yoo, Jee-Hyoung
Choi, Yoon-Jung
Kang, Jung-Gu
Sun, Young-Kyu
Ki, Chang-Seok
Lee, Kyung-A
Choi, Jong-Rak
A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome
title A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome
title_full A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome
title_fullStr A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome
title_full_unstemmed A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome
title_short A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome
title_sort novel de novo mutation in the serine-threonine kinase stk11 gene in a korean patient with peutz-jeghers syndrome
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430547/
https://www.ncbi.nlm.nih.gov/pubmed/18495044
http://dx.doi.org/10.1186/1471-2350-9-44
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