title: Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome.
abstract: BACKGROUND
  Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterized by gastrointestinal hamartomatous polyps and mucocutaneous melanin spots. Germline mutation of the serine/threonine kinase 11 (STK11) gene are responsible for PJS. In this study, we investigated the clinical characteristics and molecular basis of the disease in Chinese children with PJS.
  
  
  METHODS
  Thirteen children diagnosed with PJS in our hospital were enrolled in this study from 2011 to 2015, and their clinical data on polyp characteristics, intussusceptions events, family histories, etc. were described. Genomic DNA was extracted from whole-blood samples from each subject, and the entire coding sequence of the STK11 gene was amplified by polymerase chain reaction and analyzed by direct sequencing.
  
  
  RESULTS
  The median age at the onset of symptoms was 2 years and 4 months. To date, these children have undergone 40 endoscopy screenings, 17 laparotomies and 9 intussusceptions. Polyps were found in the stomach, duodenum, small bowel, colon and rectum, with large polyps found in 7 children. Mutations were found in eleven children, including seven novel mutations (c.481het_dupA, c.943_944het_delCCinsG, c.397het_delG, c.862 + 1G > G/A, c.348_349het_delGT, and c.803_804het_delGGinsC and c.121_139de l19insTT) and four previously reported mutations (c.658C > C/T, c.890G > G/A, c.1062 C > C/G, and c.290 + 1G > G/A). One PJS patient did not have any STK11 mutations.
  
  
  CONCLUSIONS
  The polyps caused significant clinical consequences in children with PJS, and mutations of the STK11 gene are generally the cause of PJS in Chinese children. This study expands the spectrum of known STK11 gene mutations.
authors.affiliation: Department of Gastroenterology, Children's Hospital of Fudan University, No. 399 WanYuan Road, Shanghai, 201102, China. zhihenghuang@126.com.
authors.forename: Zhiheng
authors.initials: Z
authors.lastname: Huang
authors.affiliation: Department of Gastroenterology, Children's Hospital of Fudan University, No. 399 WanYuan Road, Shanghai, 201102, China. miaosj1980@163.com.
authors.forename: Shijian
authors.initials: S
authors.lastname: Miao
authors.affiliation: Department of Gastroenterology, Children's Hospital of Fudan University, No. 399 WanYuan Road, Shanghai, 201102, China. wanglin546974055@163.com.
authors.forename: Lin
authors.initials: L
authors.lastname: Wang
authors.affiliation: The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Translational Medicine Research Center of Children's Development and Disease, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China. 15121101375@163.com.
authors.forename: Ping
authors.initials: P
authors.lastname: Zhang
authors.affiliation: The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Translational Medicine Research Center of Children's Development and Disease, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China. Bingbingwu2010@163.com.
authors.forename: Bingbing
authors.initials: B
authors.lastname: Wu
authors.affiliation: Department of Gastroenterology, Children's Hospital of Fudan University, No. 399 WanYuan Road, Shanghai, 201102, China. jiesf6660@163.com.
authors.forename: Jie
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Gastroenterology, Children's Hospital of Fudan University, No. 399 WanYuan Road, Shanghai, 201102, China. yhuang815@163.com.
authors.forename: Ying
authors.initials: Y
authors.lastname: Huang
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases