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

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 tra...

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Bibliographic Details
Published in:BMC medical genetics 2008-05, Vol.9 (1), p.44-44, Article 44
Main Authors: Yoo, Jong-Ha, Yoo, Jee-Hyoung, Choi, Yoon-Jung, Kang, Jung-Gu, Sun, Young-Kyu, Ki, Chang-Seok, Lee, Kyung-A, Choi, Jong-Rak
Format: Article
Language:English
Subjects:
Adolescent
Complications and side effects
Diagnosis
Female
Gene mutations
Genetic aspects
Humans
Male
Mutation
Pedigree
Peutz-Jeghers syndrome
Peutz-Jeghers Syndrome - genetics
Peutz-Jeghers Syndrome - pathology
Polymerase Chain Reaction
Protein kinases
Protein-Serine-Threonine Kinases - genetics
Risk factors
Sequence Analysis, DNA
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Summary: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. 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. 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. 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.
ISSN:1471-2350
1471-2350
DOI:10.1186/1471-2350-9-44