Abstract
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.
| Original language | English |
|---|---|
| Article number | 44 |
| Journal | BMC Medical Genetics |
| Volume | 9 |
| DOIs | |
| Publication status | Published - 2008 May 22 |
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All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
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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.
In: BMC Medical Genetics, Vol. 9, 44, 22.05.2008.Research output: Contribution to journal › Article
TY - JOUR
T1 - A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome
AU - Yoo, Jong Ha
AU - Yoo, Jee Hyoung
AU - Choi, Yoon Jung
AU - Kang, Jung Gu
AU - Sun, Young Kyu
AU - Ki, Chang Seok
AU - Lee, Kyung A.
AU - Choi, Jong Rak
PY - 2008/5/22
Y1 - 2008/5/22
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=45549095515&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=45549095515&partnerID=8YFLogxK
U2 - 10.1186/1471-2350-9-44
DO - 10.1186/1471-2350-9-44
M3 - Article
C2 - 18495044
AN - SCOPUS:45549095515
VL - 9
JO - BMC Medical Genetics
JF - BMC Medical Genetics
SN - 1471-2350
M1 - 44
ER -