title: S267P mutation in FGFR2: first report in a patient with Crouzon syndrome.
abstract: It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) result in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene. The mutation is firstly identified in Crouzon syndrome. Our observations expand the molecular spectrum of FGFR2 mutations in the syndrome.
authors.affiliation: From the *Department of Plastic and Reconstructive Surgery, Huashan Hospital, Fudan University School of Medicine; and the †Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jaio Tong University School of Medicine, Shanghai, China.
authors.forename: Ronghu
authors.initials: R
authors.lastname: Ke
authors.forename: Xianxian
authors.initials: X
authors.lastname: Yang
authors.forename: Min
authors.initials: M
authors.lastname: Ge
authors.forename: Tianyi
authors.initials: T
authors.lastname: Cai
authors.forename: Jiaqi
authors.initials: J
authors.lastname: Lei
authors.forename: Xiongzheng
authors.initials: X
authors.lastname: Mu
mesh_terms: D002648:Child; D002681:China; D003394:Craniofacial Dysostosis / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2