Christodoulou John, Weaving Linda S
Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW, Australia.
J Child Neurol. 2003 Oct;18(10):669-74. doi: 10.1177/08830738030180100901.
The association of Rett syndrome with pathogenic mutations of the methyl-CpG binding protein 2 (MECP2) gene was first made in 1999. Since that time, it has been found that the clinical phenotype can, at least in part, be explained in terms of the type and location of the MECP2 mutation and epigenetic factors such as skewing of X-chromosome inactivation. In addition, MECP2 mutations may be associated with non-Rett syndrome clinical phenotypes, including nonsyndromic and syndromic X-linked mental retardation and Angelman-like phenotypes. Intense research efforts are currently focused on understanding the pathogenesis of Rett syndrome, using sophisticated techniques such as microarray analysis, and the development of mouse models, with an ultimate aim being the development of targeted therapies that could ameliorate or even prevent the devastating consequences of this enigmatic neurodevelopmental disorder.
雷特综合征与甲基化CpG结合蛋白2（MECP2）基因的致病性突变之间的关联最早于1999年被发现。从那时起，人们发现临床表型至少部分可以根据MECP2突变的类型和位置以及诸如X染色体失活偏斜等表观遗传因素来解释。此外，MECP2突变可能与非雷特综合征临床表型相关，包括非综合征性和综合征性X连锁智力低下以及安吉尔曼样表型。目前，大量研究工作集中在利用微阵列分析等复杂技术了解雷特综合征的发病机制以及开发小鼠模型，最终目标是开发出能够改善甚至预防这种神秘神经发育障碍的毁灭性后果的靶向治疗方法。
