Ausavarat S, Leoyklang P, Vejchapipat P, Chongsrisawat V, Suphapeetiporn K, Shotelersuk V. Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome. World J Gastroenterol 2009; 15(42): 5364-5367 [PMID: 19908348 DOI: 10.3748/wjg.15.5364]
Corresponding Author of This Article
Kanya Suphapeetiporn, MD, PhD, Division of Medical Genetics and Metabolism, Department of Pediatrics, Sor Kor Building 11th Floor, King Chulalongkorn Memorial Hospital, Bangkok 10330, Thailand. kanya.su@chula.ac.th
Article-Type of This Article
Case Report
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Surasawadee Ausavarat, Petcharat Leoyklang, Interdepartment of Biomedical Sciences, Faculty of Graduate School, Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand
Paisarn Vejchapipat, Division of Pediatric Surgery, Department of Surgery, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand
Voranush Chongsrisawat, Division of Gastroenterology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand
Kanya Suphapeetiporn, Vorasuk Shotelersuk, Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand
Author contributions: Ausavarat S and Leoyklang P performed the research; Ausavarat S wrote the paper; Vejchapipat P and Chongsrisawat V identified and diagnosed the patients; Suphapeetiporn K and Shotelersuk V designed, supervised and participated in the editing of the manuscript; All authors read and approved the final manuscript.
Supported by Chulalongkorn University, National Science and Technology Development Agency, and the Thailand Research Fund
Correspondence to: Kanya Suphapeetiporn, MD, PhD, Division of Medical Genetics and Metabolism, Department of Pediatrics, Sor Kor Building 11th Floor, King Chulalongkorn Memorial Hospital, Bangkok 10330, Thailand. kanya.su@chula.ac.th
Telephone: +66-2-2564989 Fax: +66-2-2564911
Received: August 17, 2009 Revised: August 31, 2009 Accepted: September 7, 2009 Published online: November 14, 2009
Abstract
Peutz-Jeghers syndrome (PJS), a rare autosomal dominant inherited disorder, is characterized by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. Patients with this syndrome have a predisposition to a variety of cancers in multiple organs. Mutations in the serine/threonine kinase 11 (STK11) gene have been identified as a major cause of PJS. Here we present the clinical and molecular findings of two unrelated Thai individuals with PJS. Mutation analysis by Polymerase Chain Reaction-sequencing of the entire coding region of STK11 revealed two potentially pathogenic mutations. One harbored a single nucleotide deletion (c.182delG) in exon 1 resulting in a frameshift leading to premature termination at codon 63 (p.Gly61AlafsX63). The other carried an in-frame 9-base-pair (bp) deletion in exon 7, c.907_915del9 (p.Ile303_Gln305del). Both deletions were de novo and have never been previously described. This study has expanded the genotypic spectrum of the STK11 gene.
