FGFR2基因中的S267P突变：首例克氏综合征患者报告

S267P mutation in FGFR2: first report in a patient with Crouzon syndrome.

作者信息

Ke Ronghu, Yang Xianxian, Ge Min, Cai Tianyi, Lei Jiaqi, Mu Xiongzheng

机构信息

From the *Department of Plastic and Reconstructive Surgery, Huashan Hospital, Fudan University School of Medicine; and the †Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jaio Tong University School of Medicine, Shanghai, China.

出版信息

J Craniofac Surg. 2015 Mar;26(2):592-4. doi: 10.1097/SCS.0000000000001527.

DOI:10.1097/SCS.0000000000001527

PMID:25759927

Abstract

It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) result in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene. The mutation is firstly identified in Crouzon syndrome. Our observations expand the molecular spectrum of FGFR2 mutations in the syndrome.

摘要

多年来已知成纤维细胞生长因子受体（FGFR2）的突变会导致综合征性颅缝早闭，包括Apert综合征、Crouzon综合征或Pfeiffer综合征。在此，我们报告一名临床诊断为Crouzon综合征的儿童，其FGFR2基因存在错义点突变S267P。该突变首次在Crouzon综合征中被鉴定出来。我们的观察结果扩展了该综合征中FGFR2突变的分子谱。