Open AccessNovel mutations in the STK11 gene in Thai patients withPeutz-Jeghers syndrome
Author(s) -
Surasawadee Ausavarat,
Petcharat Leoyklang,
Paisarn Vejchapipat,
Voranush Chongsrisawat,
Kanya Suphapeetiporn,
Vorasuk Shotelersuk
Publication year - 2009
Publication title -
world journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 155
eISSN - 2219-2840
pISSN - 1007-9327
DOI - 10.3748/wjg.15.5364
Subject(s) - stk11 , frameshift mutation , peutz–jeghers syndrome , exon , genetics , mucocutaneous zone , biology , gene , mutation , cancer research , microbiology and biotechnology , medicine , pathology , kras , disease
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.