Deutscher K, Deutscher J, Bergmann L, Tefs K, Reichwald K, Schuster V
Universitätsklinik und Poliklinik für Kinder und Jugendliche, Leipzig.
Klin Padiatr. 2002 Sep-Oct;214(5):291-4. doi: 10.1055/s-2002-34016.
We report on four mental retarded girls with typical clinical signs of Rett syndrome. Rett syndrome is an X-linked neurodevelopment disorder which develops after a period of normal development at the age of 6 to 18 months, affecting 1/10 000 - 15 000 girls. Recently, the MeCP2-gene encoding the methyl-CpG-binding protein 2 has been shown to be mutated in 80 percent of girls with Rett Syndrome, studied so far. In our patients with Rett syndrome two common mutations of the MeCP2-gene, R168X (n=2) and T158M were found. In the 4th patient a novel "missense" mutation R294G was identified.
我们报告了4名患有雷特综合征典型临床症状的智力发育迟缓女孩。雷特综合征是一种X连锁神经发育障碍，在6至18个月的正常发育阶段后发病，影响万分之一至万分之十五的女孩。最近，编码甲基CpG结合蛋白2的MeCP2基因在迄今为止研究的80%的雷特综合征女孩中被发现发生了突变。在我们的雷特综合征患者中，发现了MeCP2基因的两种常见突变，即R168X（n = 2）和T158M。在第4名患者中，鉴定出一种新的“错义”突变R294G。
