title: FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome.
abstract: OBJECTIVE
  The purposed of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in one Chinese family with Crouzon syndrome and to characterize the related clinical features.
  
  
  METHODS
  One family underwent complete ophthalmic examinations, and two patients were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood collected from the family and 100 unrelated control subjects from the same population. Exons 8 and 10 of FGFR2 were amplified by polymerase chain reaction (PCR) and directly sequenced. We performed ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, Pentacam, Goldmann perimetry, and computed tomography (CT) of the skull.
  
  
  RESULTS
  The two patients were affected with shallow orbits and ocular proptosis, accompanied by midface hypoplasia, craniosynostosis, and clinically normal hands and feet. A heterozygous FGFR2 missense mutation c.866A>C (Gln289Pro) in exon 8 was identified in the affected individuals, but not in any of the unaffected family members and the normal controls.
  
  
  CONCLUSIONS
  Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 mutation in Chinese patients with Crouzon syndrome.
authors.affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.forename: Xuanwei
authors.initials: X
authors.lastname: Liang
authors.forename: Siming
authors.initials: S
authors.lastname: Ai
authors.forename: Chuan
authors.initials: C
authors.lastname: Chen
authors.forename: Xialin
authors.initials: X
authors.lastname: Liu
authors.forename: Lixia
authors.initials: L
authors.lastname: Luo
authors.forename: Shaobi
authors.initials: S
authors.lastname: Ye
authors.forename: Baoxin
authors.initials: B
authors.lastname: Li
authors.forename: Yizhi
authors.initials: Y
authors.lastname: Liu
authors.forename: Huasheng
authors.initials: H
authors.lastname: Yang
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002681:China; D003394:Craniofacial Dysostosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
chemical_list: D017931:DNA Primers; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2