title: [Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome].
abstract: OBJECTIVE
  To detect potential mutations of fibroblast growth factor receptor 2 gene (FGFR2) in two Chinese families with Crouzon syndrome.
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood leukocytes of 20 members from two affected families. All of the 18 exons of the FGFR2 gene were amplified with polymerase chain reaction and sequenced after purification.
  
  
  RESULTS
  A missense mutation c.868T>C (p.W290R) in exon 8 of the FGFR2 gene was found solely in 2 affected members from family 1. Another missense mutation c.833G>T (p.C278F) in exon 8 was found solely in 5 affected members of family 2.
  
  
  CONCLUSIONS
  The missense mutations of the FGFR2 gene are responsible for the Crouzon syndrome in the two families. The c.868T>C missense mutation is reported for the first time in Chinese population.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, P. R. China. Email: panqian@sklmg.edu.cn.
authors.forename: Yanru
authors.initials: Y
authors.lastname: Huang
authors.forename: Libin
authors.initials: L
authors.lastname: Mei
authors.forename: Wei
authors.initials: W
authors.lastname: Su
authors.forename: Pu
authors.initials: P
authors.lastname: Yang
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002681:China; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D055815:Young Adult
chemical_list: D051497:Receptor, Fibroblast Growth Factor, Type 2