title: Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.
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.
authors.affiliation: Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, and Department of Peidatrics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
authors.forename: Surasawadee
authors.initials: S
authors.lastname: Ausavarat
authors.forename: Petcharat
authors.initials: P
authors.lastname: Leoyklang
authors.forename: Paisarn
authors.initials: P
authors.lastname: Vejchapipat
authors.forename: Voranush
authors.initials: V
authors.lastname: Chongsrisawat
authors.forename: Kanya
authors.initials: K
authors.lastname: Suphapeetiporn
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000293:Adolescent; D044466:Asian People; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010580:Peutz-Jeghers Syndrome / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013785:Thailand
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases