title: Severe meningeal calcification in a Crouzon patient carrying a mutant C342W FGFR2.
abstract: Crouzon is an autosomal dominant craniosynostosis syndrome caused by mutation in the fibroblast growth factor receptor (FGFR)-2 gene. Recent findings from animal studies imply a critical role for FGFs in the regulation of mineralization. Here, we presented a 5-year-old girl with severe meningeal calcification. Subsequently, we analyzed FGFR2 mutation and identified a mutation of Cys342Tyr. The findings suggest that abnormal calcification was atypical phenotype of Crouzon patients with Cys342Tyr mutation in FGFR2.
authors.affiliation: From the Department of Plastic and Reconstructive Surgery, Huashan Hospital, Fudan University School of Medicine, Shanghai, China.
authors.forename: Ronghu
authors.initials: R
authors.lastname: Ke
authors.forename: Jiaqi
authors.initials: J
authors.lastname: Lei
authors.forename: Min
authors.initials: M
authors.lastname: Ge
authors.forename: Tianyi
authors.initials: T
authors.lastname: Cai
authors.forename: Junyi
authors.initials: J
authors.lastname: Yang
authors.forename: Yingzhi
authors.initials: Y
authors.lastname: Wu
authors.forename: Xiongzheng
authors.initials: X
authors.lastname: Mu
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D000818:Animals; D002114:Calcinosis / Q000235:genetics*; D002648:Child; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003553:Cystine / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008578:Meninges / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D014443:Tyrosine / Q000235:genetics
chemical_list: D014443:Tyrosine; D003553:Cystine; D051497:Receptor, Fibroblast Growth Factor, Type 2