MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain - Balmer, Arredondo, et al. - 2002 () Citation Context ... methyltransferase (Dnmt1), the Snrpn promoter was completely unmethylated (Fig. 4C). It was ...
(2002) MECP2 gene mutation analysis in Chinese patients with Rett syndrome. Eur J Hum Genet 10: 484-486.Pan H; Wang YP; Bao XH;.MECP2 gene mutation analysis in Chinese patients with Rett syndrome.Eur J Hum Genet.2002.484-486Pan H, Wang YP, Bao XH, et al. MECP2 gene mutation ...
雷特综合征(Rett syndrome)是一种罕见的遗传神经发育障碍,临床表现包括行走和语言能力受损,特征性的“搓手”动作,癫痫和认知功能障碍。这种疾病主要影响年轻女孩,世界范围内大约每10000~15000名新生女婴中有…
综述MECP2基因突变在Rett综合征中的意义张 晨 禹顺英 谢斌 Rett综合征(Rettsyndrome,RTT)是一种起病于婴幼儿期的广泛性发育障碍,主要表现为早期发育..
RETT syndromeGENETIC mutationMICROBIAL virulencePHENOTYPESDATA integrationRett syndrome (RTT) is a rare neurological disorder mostly caused by a genetic variation in MECP2 . Making new MECP2 variants and the related phenotypes available provides data for better understanding of disease mechanisms and ...
Rett综合征1例及其MECP2基因新突变_㊃病例报告㊃ 通信作者:柳国胜,E m a i l :t l g s @j n u .e d u .c n R e t t 综合征1例及其M E C P 2基因新突变 胡 婷a ,李冰肖a ,张占会b ,柳国胜a (暨南大学附属第一医院a .儿科;b .临床医学研究院,广东广州510632 )关键词:R e t ...
【摘要】目的研究Rett综合征(Rettsyndrome,R1Yr)致病基因甲基化CpG结合蛋白2(Methvl—CpG—bid. ingprotein2,MECP2)大片段缺失突变的3例患儿表型特征。方法对于编码区未检出致病突变而临床表现 疑为RTT的7例患儿采用定量PCR技术检测MECP2基因有无缺失突变,随后依据现行修订诊断标准进行随 ...
结论 发现国内首例MECP2基因致病突变导致男性Rett 综合征。关键词： Rett 综合征； MECP2基因； 突变 Report of a boy with Rett syndrome caused by a novel MECP2 mutation and literature review GE Junwen 1, LAN Xiaoping 2, LI Hongmei 1, ZHANG Rufang 1, SHEN Li 1 （1.Department of ...
关键词: Rett综合征;甲基化CpG结合蛋白2;MECP2;基因突变 ABSTRACT ObjectiveTo identify the pathogenic mutation in a girl with Rett syndrome (RTT) , and to perform a parental origin analysis of the mutation. MethodsThe clinical data of a Chinese girl with typical RTT from the Department of Medica...
Rett综合征(Rett syndrome)是一种X连锁显性遗传神经发育退行性疾病,发病率为1/(10 000~15 000) [1]。X染色体上甲基化CpG结合蛋白2(methyl-CpG binding protein 2,MECP2)基因缺失突变是引起Rett综合征最常见的原因,该基因定位于Xq28染色体上 [2,3]。该病多为新生突变,家族遗传少见;多见于女性,男性儿童罕见 ...