ARX基因突变及相关疾病的研究进展  

Research progress on ARX gene mutations and related diseases

作　　者：朱小妹[1] 王艺[1] 

机构地区：[1]复旦大学附属儿科医院神经内科,上海201102

出　　处：《国际遗传学杂志》2012年第4期229-233,247,共6页International Journal of Genetics

基　　金：国家自然科学基金（81071116）

摘　　要：ARX（aristaless．relatedhomeobox）基因位于人类x染色体短臂（Xp22．13），包含5个外显子，其编码的蛋白质（ARX蛋白）含有562个氨基酸，该蛋白质为转录调节因子，调节大脑的发育。ARX基因突变与多种疾病相联系，如x连锁婴儿痉挛症、x连锁的肌阵挛性癫痫伴随强直状态和智力障碍、X连锁的非特异性精神发育迟滞、早期婴儿肌阵挛脑病、Partington综合征、Proud综合征等。目前国外已有大量关于ARX基因突变及相关疾病的病例报道和研究。此文将对ARX基因突变及相关疾病的研究进展作一综述。ARX （ aristaless- related homeobox ） gene is located on the short ann of the human X chromosome （Xp22. 13 ）. It contains five exons and encodes ARX protein, which contains 562 amino acids and regulates the brain development as a protein transcription factor. ARX gene mutations are associated with many diseases, such as X-linked Infantile Spasms Syndrome, X-linked myoclonic epilepsy with spas- ticity and intellectual disability, non-specific X-linked mental retardation, early infantile myoclonic encephalopathy, Partington syndrome, Proud syndrome, and hydranencephaly with ambiguous genitalia, etc. Currently there are a large number of case reports and studies on the ARX gene mutation and its related diseases.

关 键 词：ARX 基因型 表现型 突变 X-连锁 动物模型 

分 类 号：R596[医药卫生—内科学]