title: Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome.
abstract: BACKGROUND
  Children with Peutz-Jeghers syndrome (PJS) suffer from the continuous growth of polyps in their gastrointestinal tracts. Limited research on PJS has found that truncating mutations of the serine/threonine kinase 11 (STK11) gene may correlate with early symptoms and a greater number of polyps. Thus, further studies correlating the genetic and clinical characteristics of PJS would increase our understanding of this condition and improve recommendations for treatment.
  
  
  OBJECTIVE
  Our study was designed to characterize the genetic and clinical characteristics of four Chinese PJS children (two girls and two boys) and their affected relatives from Southern China.
  
  
  RESULTS
  One recurrent missense mutation (c.487G>C) and two novel nonsense (truncation) mutations (c.717G>A and c.871G>T) in the STK11 gene were identified. The two boys with nonsense mutations underwent their first surgeries at younger ages (2 and 4 years) compared to the others. The two girls underwent their first surgeries at similar ages, though the girl with the nonsense mutation underwent more surgeries than the girl with the missense mutation. The children with truncation mutations had medium to high counts of hamartomatous polyps, whereas the girl with the missense mutation had a lower count. The clinical findings were similar among affected individuals within each of the three families.
  
  
  CONCLUSIONS
  These cases are consistent with previous findings, thus we conclude that children with nonsense mutations in STK11 should be closely monitored for polyp formation.
authors.affiliation: 1 Division of Birth Cohort Study, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Jie
authors.initials: J
authors.lastname: Fu
authors.affiliation: 2 Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Zhe
authors.initials: Z
authors.lastname: Wen
authors.affiliation: 3 Department of Pathology, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Fenghua
authors.initials: F
authors.lastname: Wang
authors.affiliation: 2 Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Wei
authors.initials: W
authors.lastname: Zhong
authors.affiliation: 2 Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Qiuming
authors.initials: Q
authors.lastname: He
authors.affiliation: 2 Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Qifeng
authors.initials: Q
authors.lastname: Liang
authors.affiliation: 2 Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Siyuan
authors.initials: S
authors.lastname: Zhang
authors.affiliation: 1 Division of Birth Cohort Study, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Yashu
authors.initials: Y
authors.lastname: Kuang
authors.affiliation: 1 Division of Birth Cohort Study, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Xiaodan
authors.initials: X
authors.lastname: Liu
authors.affiliation: 2 Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Deli
authors.initials: D
authors.lastname: Zhu
authors.affiliation: 2 Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Jiakang
authors.initials: J
authors.lastname: Yu
authors.affiliation: 1 Division of Birth Cohort Study, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Xiu
authors.initials: X
authors.lastname: Qiu
authors.affiliation: 2 Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center , Guangzhou, China .
authors.forename: Huimin
authors.initials: H
authors.lastname: Xia
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D002681:China; D018389:Codon, Nonsense; D005260:Female; D006222:Hamartoma / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases