Research article

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

Jong-Ha Yoo¹ , Jee-Hyoung Yoo² , Yoon-Jung Choi³ , Jung-Gu Kang⁴ , Young-Kyu Sun¹ , Chang-Seok Ki⁵ , Kyung-A Lee⁶ and Jong-Rak Choi⁶

¹Department of Laboratory Medicine, National Health Insurance Corporation Ilsan Hospital, Goyang, Korea

²Department of Pediatrics, National Health Insurance Corporation Ilsan Hospital, Goyang, Korea

³Department of Pathology, National Health Insurance Corporation Ilsan Hospital, Goyang, Korea

⁴Department of Surgery, National Health Insurance Corporation Ilsan Hospital, Goyang, Korea

⁵Department of Laboratory Medicine, Samsung Medical center, Sungkyunkwan University School of Medicine, Seoul, Korea

⁶Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea

author email corresponding author email

BMC Medical Genetics 2008, 9:44doi:10.1186/1471-2350-9-44

Published:	22 May 2008

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.