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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.
Peutz-Jeghers syndrome (PJS), a rare autosomal dominant inherited disorder, 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 no no and have never been previously described. This study has expanded the genotypic spectrum of the STK11 gene.