一名携带突变型C342W FGFR2的克鲁宗综合征患者出现严重的脑膜钙化。

Severe meningeal calcification in a Crouzon patient carrying a mutant C342W FGFR2.

作者信息

Ke Ronghu, Lei Jiaqi, Ge Min, Cai Tianyi, Yang Junyi, Wu Yingzhi, Mu Xiongzheng

机构信息

From the Department of Plastic and Reconstructive Surgery, Huashan Hospital, Fudan University School of Medicine, Shanghai, China.

出版信息

J Craniofac Surg. 2015 Mar;26(2):557-9. doi: 10.1097/SCS.0000000000001393.

DOI:10.1097/SCS.0000000000001393

PMID:25692891

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.

摘要

克鲁宗综合征是一种常染色体显性颅缝早闭综合征，由成纤维细胞生长因子受体（FGFR）-2基因突变引起。动物研究的最新发现表明，成纤维细胞生长因子在矿化调节中起关键作用。在此，我们报告了一名患有严重脑膜钙化的5岁女孩。随后，我们分析了FGFR2突变，确定了Cys342Tyr突变。这些发现表明，异常钙化是FGFR2基因发生Cys342Tyr突变的克鲁宗综合征患者的非典型表型。