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...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_GIn305del）. Both deletions were de novo and have never been previously described. This study has expanded the genotypic spectrum of the STK11 gene.展开更多
基金Supported by Chulalongkorn University,National Science and Technology Development Agency,and the Thailand Research Fund
文摘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_GIn305del）. Both deletions were de novo and have never been previously described. This study has expanded the genotypic spectrum of the STK11 gene.
