摘要
脆性x综合征（FXS）是遗传性智力低下的常见原因，主要由FMR1基因突变导致（CGG）n序列异常扩增（n〉200）引起。但是，FMR1基因前突变（n=55-200）也可引起一系列的临床表现，其机制与FXS完全不同，为mRNA毒性机制。在1991年FMR1基因发现后的几年内，学者们普遍认为前突变携带者在临床上没有受累，只是女性携带者的CGG序列在遗传过程中可能发生扩增，导致子女患FXS。因此，临床医师很少注意前突变相关疾病，并且对于前突变和FXS之间的关系和区别普遍缺乏认识。现对FMR1基因前突变相关的临床表现、神经病理学和分子机制进行综述。
Fragile X syndrome （FXS） is one of the common causes of inherited intellectual disability. It is mainly caused by the mutation of FMR1 gene which lead to （CGG） n abnormal amplification （n 〉 200）. However, the FMR1 gene premutation （ n = 55 - 200 ） can cause a series of clinical manifestations through an entirely distinct molecular mechanism from FXS,which involved increased FMR1 mRNA toxicity. A few years after the discovery of the FMR1 gene in 1991 ,it was generally believed that the carriers of premutation were clinically unaffected,but female car- riers of premutation had children with FXS. Thus, a few doctors pay attention to these disorders and generally lack of awareness the difference between the premutation and FXS. A review of the clinical manifestations, neuropathology and molecular mechanisms will show in the following paper.
作者
牛曼曼
韩颖
秦炯
杜军保
金红芳
赵阳
张静
李沁芮
Niu Manman Han Ying Qin Jiong Du Junbao Jin Hongfang Zhao Yang Zhang Jing Li Qinrui(Department of Pediatrics, Peking University First Hospital,Bering 100034, China Department of Pediatrics, Peking University People＇s Hospital, Beijing 100044, Chin)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2016年第20期1588-1590,共3页
Chinese Journal of Applied Clinical Pediatrics
基金
国家自然科学基金（81200998）
