title: The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.
abstract: Crouzon syndrome is an autosomal dominant craniosynostosis syndrome caused by mutation in the fibroblast growth factor receptor 2 (FGFR-2). Numerous findings from animal studies imply a critical role for FGFRs in the regulation of skeletal development. Here, we report 2 unrelated patients with Crouzon syndrome accompanied by elbow deformity. Subsequently, we analyzed the sequence of the FGFR2 gene and found that both of the patients carried the Cys342Arg mutation. The findings suggest that the C342R mutation in FGFR2 may cause Crouzon syndrome and elbow deformity in Chinese patients.
authors.affiliation: From the *Department of Plastic and Reconstructive Surgery, Huashan Hospital, Fudan University School of Medicine; and †Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao 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: Cai
authors.initials: C
authors.lastname: Tianyi
authors.forename: Min
authors.initials: M
authors.lastname: Ge
authors.forename: Jiaqi
authors.initials: J
authors.lastname: Lei
authors.forename: Xiongzheng
authors.initials: X
authors.lastname: Mu
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D004551:Elbow Joint / Q000002:abnormalities*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D004204:Joint Dislocations / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D056740:Olecranon Process / Q000002:abnormalities; D010641:Phenotype; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
chemical_list: D001120:Arginine; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2; D003545:Cysteine