作者@article {Hoffbuhr1486 = {K。Hoffbuhr和j . m . Devaney拉弗勒尔b和n . Sirianni c Scacheri j形坝和j . Schuette j•英尼斯·m·马里诺和m . Philippart诉Narayanan r . Umansky和d . Kronn e·p·霍夫曼和美国Naidu}, title = {MeCP2突变表型有或没有的儿童Rett综合症},体积={56}={11},页面= {1486 - 1495}= {2001},doi = {10.1212 / WNL.56.11.1486},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={背景:Rett综合症(RTT)是一种神经发育障碍引起的突变和x染色体相关甲基CpG结合蛋白2 (MeCP2)基因。首页方法:一百一十六例古典和非典型RTT研究基因突变的MeCP2采用DHPLC和直接测序。结果:确定了病因MeCP2基因的突变\ %的患者,63年代表共30种不同的基因突变。突变被发现在72 \ %的患者古典RTT和三分之一的非典型病例研究25 (8)。作者发现17小说突变,包括一个复杂的基因重排中发现一个人涉及两个缺失和重复。3内的重复相同的是一个地区的翻译区(UTR)和代表参与的第一次报告的3 ' UTR RTT。作者还报告在两个雄性MeCP2突变的识别;Klinefelter {\ textquoteright}年代男性经典RTT (T158M)和半合子的男性婴儿Xq27-28反演和小说32 bp移码删除[1154 (del32)]。研究突变之间的关系类型,X-inactivation状态和临床表现的严重程度发现显著差异在临床表现之间的不同类型的突变。 Mutations in the amino-terminus were significantly correlated with a more severe clinical presentation compared with mutations closer to the carboxyl-terminus of MeCP2. Skewed X-inactivation patterns were found in two asymptomatic carriers of MeCP2 mutations and six girls diagnosed with either atypical or classical RTT. Conclusion:This patient series confirms the high frequency of MeCP2gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns).}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/56/11/1486}, eprint = {//www.ez-admanager.com/content/56/11/1486.full.pdf}, journal = {Neurology} }