Severe meningeal calcification in a Crouzon patient carrying a mutant C342W FGFR2.
Severe meningeal calcification in a Crouzon patient carrying a mutant C342W FGFR2.
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携带 C342W FGFR2 突变体的 Crouzon 患者出现严重脑膜钙化。
DOI：
10.1097/scs.0000000000001393
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Xiongzheng Mu
中科院分区：
文献类型：
--
作者：
Ronghu Ke;Jiaqi Lei;Min Ge;Tianyi Cai;Junyi Yang;Yingzhi Wu;Xiongzheng Mu
Crouzon 是一种常染色体显性遗传性颅缝早闭综合征，由成纤维细胞生长因子受体 (FGFR)-2 基因突变引起。最近的动物研究结果表明 FGF 在矿化调节中发挥着关键作用。在这里，我们介绍了一名患有严重脑膜钙化的 5 岁女孩。随后，我们分析了FGFR2突变并鉴定了Cys342Tyr的突变。研究结果表明，异常钙化是 FGFR2 Cys342Tyr 突变 Crouzon 患者的非典型表型。
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.