title: A De Novo mutation of STK11 gene in a Chinese patient with Peutz-Jeghers syndrome.
abstract: Peutz-Jeghers syndrome (PJS) is an autosomal-dominant inherited disorder characterized by mucocutaneous pigmentation, hamartomatous polyposis of the gastrointestinal tract, and an increased risk for the development of both gastrointestinal and extraintestinal malignancies. Germline mutation of the STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. We collected blood samples from a Chinese PJS family consisting of a total of four individuals (one male and three females) including one PJS patient. The whole coding region of STK11 was amplified by polymerase chain reaction and products analyzed by direct sequencing. Molecular analysis of the STK11 gene in this case of PJS revealed a substitution of thymine 217 for adenine (C.217T > A) in exon 1, resulting in a change of codon 73 from cysteine to serine (C73S). The point mutation was not found in normal individuals in this PJS family or in 100 control individuals. The results presented here enlarge the spectrum of mutations of the STK11 gene by identifying a de novo mutation in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS.
authors.affiliation: Institute of Digestive Endoscopy and Medical Center for Digestive Diseases, Second Affiliated Hospital of Nanjing Medical University, 210011, Nanjing, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Gao
authors.forename: Fa-Ming
authors.initials: FM
authors.lastname: Zhang
authors.forename: Shu
authors.initials: S
authors.lastname: Huang
authors.forename: Xiang
authors.initials: X
authors.lastname: Wang
authors.forename: Ping
authors.initials: P
authors.lastname: Zhang
authors.forename: Xiao-Dan
authors.initials: XD
authors.lastname: Huang
authors.forename: Guo-Zhong
authors.initials: GZ
authors.lastname: Ji
authors.forename: Zhi-Ning
authors.initials: ZN
authors.lastname: Fan
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics; D001706:Biopsy; D002681:China; D003062:Codon / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007413:Intestinal Mucosa / Q000473:pathology; D010580:Peutz-Jeghers Syndrome / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics
chemical_list: D003062:Codon; D012694:Serine; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases; D003545:Cysteine