title: A novel mutation in STK11 gene is associated with Peutz-Jeghers syndrome in Chinese patients.
abstract: BACKGROUND
  Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips, and an increased risk of developing cancer.
  
  
  METHODS
  Blood samples were collected from two unrelated Chinese PJS families totaling 20 individuals (9 male and 11 females), including 6 PJS patients. The entire coding region of the STK11 gene was amplified by polymerase chain reaction and analyzed by direct sequencing.
  
  
  RESULTS
  A novel mutation, c.904C > T, in exon 7 was identified in both families. A C > T substitution changed codon 302 from CAG (glutamine) to TAG (stop), truncating the STK11 protein, thus leading to the partial loss of the kinase domain and complete loss of the α-helix C-terminus. Furthermore, one PJS patient from each family was diagnosed with a visceral cancer, a colon cancer and a liver cancer respectively.
  
  
  CONCLUSIONS
  We predict that this novel mutation, p.Q302X, is most likely responsible for development of the PJS phenotype and may even contribute to malignancy.
authors.affiliation: Guangdong Provincial Key Laboratory of Gastroenterology, Department of Gastroenterology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China.
authors.forename: Zhiqing
authors.initials: Z
authors.lastname: Wang
authors.forename: Yulan
authors.initials: Y
authors.lastname: Chen
authors.forename: Baoping
authors.initials: B
authors.lastname: Wu
authors.forename: Haoxuan
authors.initials: H
authors.lastname: Zheng
authors.forename: Jiman
authors.initials: J
authors.lastname: He
authors.forename: Bo
authors.initials: B
authors.lastname: Jiang
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D018389:Codon, Nonsense; D003110:Colonic Neoplasms / Q000175:diagnosis / Q000235:genetics; D005091:Exons; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008113:Liver Neoplasms / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017434:Protein Structure, Tertiary; D012307:Risk Factors; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases