The C342R Mutation in FGFR2 Causes Crouzon Syndrome With Elbow Deformity
The C342R Mutation in FGFR2 Causes Crouzon Syndrome With Elbow Deformity
复制标题
FGFR2 中的 C342R 突变会导致伴有肘部畸形的克鲁松综合征。
DOI：
10.1097/scs.0000000000001472
复制
发表时间：
2015-03-01
影响因子：
0.9
通讯作者：
Mu, Xiongzheng
中科院分区：
文献类型：
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作者：
Ke, Ronghu;Yang, Xianxian;Mu, Xiongzheng
Crouzon综合征是由成纤维细胞生长因子受体2（FGFR-2）突变引起的常染色体显性颅缝早闭综合征。来自动物研究的许多发现暗示FGFRs在骨骼发育的调节中起关键作用。在这里，我们报告2个无关的患者Crouzon综合征合并肘关节畸形。随后，我们分析了FGFR 2基因的序列，发现两名患者都携带Cys 342 Arg突变。提示FGFR 2基因C342 R突变可能导致中国人Crouzon综合征和肘关节畸形。
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.