title: Analysis of STK11 gene variant in five Chinese patients with Peutz-Jeghers syndrome.
abstract: BACKGROUND
  Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Germline mutation of a serine/threonine kinase 11(STK11) gene has been identified as a cause of PJS. In this study, we investigated the molecular basis of five Chinese PJS patients.
  
  
  METHODS
  Blood samples were collected from five unrelated Chinese PJS patients and their parents. The entire coding region of the STK11 gene was amplified by polymerase chain reaction and analyzed by direct sequencing.
  
  
  RESULTS
  Three different frameshift mutations (c.519insTGTG, c.792_793insT, and c.334_335insC), all of which would cause truncation of the gene product, were found in three patients. One missense mutation (p.Ser307Thr) and one 3bp deletion mutation (c.228-230del CGT) were identified in the remaining two patients. All of the five investigated patients carried de novo mutations.
  
  
  CONCLUSIONS
  The results support that mutation of the LKB1 gene is a cause of PJS, and expand the spectrum of the STK11 gene mutations.
authors.affiliation: Department of Gastroenterology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing, China.
authors.forename: Bixia
authors.initials: B
authors.lastname: Zheng
authors.forename: Jian
authors.initials: J
authors.lastname: Pan
authors.forename: Yaping
authors.initials: Y
authors.lastname: Wang
authors.forename: Mei
authors.initials: M
authors.lastname: Li
authors.forename: Min
authors.initials: M
authors.lastname: Lian
authors.forename: Yucan
authors.initials: Y
authors.lastname: Zheng
authors.forename: Yu
authors.initials: Y
authors.lastname: Jin
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D044466:Asian People / Q000208:ethnology* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007223:Infant; D020125:Mutation, Missense / Q000235:genetics; D010580:Peutz-Jeghers Syndrome / Q000208:ethnology* / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases
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