摘要
目的通过对1个Crouzon综合征家系成员临床特征分析，结合致病基因成纤维生长因子受体2（FGFR2）基因突变位点鉴定，了解该病临床发病特点和分子遗传学基础。方法从Crouzon综合征家系的4名成员的外周血中提取基因组DNA，PCR扩增FGFR2的第3、4、5、6、7、8、10、11、12、13、14、15、16、17、18、19、21号外显子，产物纯化后行DNA测序，检测突变。结果被检测的4名家系成员中有3名发现FGFR2第7外显子的868位核苷酸发生了T→C的转换突变，使编码的氨基酸由色氨酸变为精氨酸（W290R）。结论该突变可能是通过引起FGFR2信号过度表达，造成成骨异常，导致颅缝早闭。FGFR2的W290R突变可能造成中国Crouzon综合征患者发病原因之一。
Objective To analyze the cilinical characteristics of a chinese family with Crouzon syndrome, combined with disease genes （FGFR2） identification of gene mutations, understanding the characteristics of the clinical onset of the disease and molecular genetic basis. Methods A single family underwent complete examinations, and three patients were diagnosed with Crouzon syndrome. The genomic DNA was extracted from the peripheral blood collected from members of the family. Exons 3,4,5,6,7,8 ,10, 11,12,13,14,15,16,17,18,19,21 of FGFR 2 were amplified by polymerase chain reaction （PCR） and directly sequenced. Results A W290R mutation of FGFR2 was found in three members of this Crouzon syndrome family. Conclusions This mutation might cause ligand - independent activation of FGFR2 signaling pathway, which could result in abnormal ossification and excessive ossification. The W290R mutation may be one of the reasons that cause the Crouzon syndrome in Chinese.
出处
《中华神经外科杂志》
CSCD
北大核心
2014年第6期592-595,共4页
Chinese Journal of Neurosurgery
