Lin Ying, Liang Xuanwei, Ai Siming, Chen Chuan, Liu Xialin, Luo Lixia, Ye Shaobi, Li Baoxin, Liu Yizhi, Yang Huasheng
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Mol Vis. 2012;18:449-54. Epub 2012 Feb 12.
The purposed of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in one Chinese family with Crouzon syndrome and to characterize the related clinical features.
One family underwent complete ophthalmic examinations, and two patients were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood collected from the family and 100 unrelated control subjects from the same population. Exons 8 and 10 of FGFR2 were amplified by polymerase chain reaction (PCR) and directly sequenced. We performed ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, Pentacam, Goldmann perimetry, and computed tomography (CT) of the skull.
The two patients were affected with shallow orbits and ocular proptosis, accompanied by midface hypoplasia, craniosynostosis, and clinically normal hands and feet. A heterozygous FGFR2 missense mutation c.866A>C (Gln289Pro) in exon 8 was identified in the affected individuals, but not in any of the unaffected family members and the normal controls.
Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 mutation in Chinese patients with Crouzon syndrome.
本研究旨在对一个患有克鲁宗综合征的中国家系中的成纤维细胞生长因子受体2（FGFR2）基因进行研究，并描述相关临床特征。
对一个家系进行了全面的眼科检查，两名患者被诊断为克鲁宗综合征。从该家系以及来自同一人群的100名无关对照受试者的外周血白细胞中提取基因组DNA。通过聚合酶链反应（PCR）扩增FGFR2的第8和第10外显子并直接测序。我们进行了眼科检查，包括最佳矫正视力、裂隙灯检查、眼底检查、眼前节分析仪检查、Goldmann视野检查以及头颅计算机断层扫描（CT）。
两名患者表现为眼眶浅和眼球突出，伴有面中部发育不全、颅缝早闭，且手部和足部临床检查正常。在患病个体中鉴定出FGFR2第8外显子的一个杂合错义突变c.866A>C（Gln289Pro），而在任何未患病家庭成员和正常对照中均未发现该突变。
尽管在不同种族中，尤其是在骨科学领域，已经报道了FGFR2突变和多态性，但我们首次报告在中国克鲁宗综合征患者中鉴定出一种新的FGFR2突变。
