Rett综合征的临床特点及MECP2基因突变分析

发布时间：2018-11-17 12:48

【摘要】：目的分析典型的Rett综合征患者的临床特点,并对患儿甲基化CpG结合蛋白-2(MECP2)基因进行突变分析。方法使用PCR扩增和测序的方法对近期诊断的9例RETT综合征患儿及其父母MECP2基因的3个外显子进行检测。结果在9例患儿中发现5例存在MECP2基因的杂合突变,突变率超过50%,其中1例为碱基插入导致的移码突变(c.913insT);其余4例为点突变,分别为位于外显子3的c.316CT(R106W),位于外显子4的c.502CT(R168X)、c.808CT(R270X)和c.1126CT(P376S),其中c.913insT为首次发现的突变,这些患儿父母均未检测到突变。2例患儿MECP2基因突变位于转录抑制区域,与其他患儿相比,这2个患儿语言功能几乎丧失,且发育明显落后。结论该研究确诊的5例Rett综合征的患儿存在MECP2基因突变,且多数位于外显子4上;MECP2蛋白转录抑制区域突变可能影响患儿语言功能及发育明显落后。
[Abstract]:Objective to analyze the clinical characteristics of typical patients with Rett syndrome and to analyze the mutation of methylated CpG binding protein-2 (MECP2) gene in children. Methods PCR amplification and sequencing were used to detect three exons of MECP2 gene in 9 children with RETT syndrome and their parents. Results the heterozygous mutation of MECP2 gene was found in 5 out of 9 children, and the mutation rate was more than 50. One of them was a c.913insT caused by base insertion. The other 4 cases were point mutations, including c.316CT (R106W) located in exon 3, c.502CT (R168X), c.808CT (R270X) and c.1126CT (P376S) in exon 4, in which c.913insT was the first mutation. The mutation of MECP2 gene was located in the transcription inhibition region in 2 children. Compared with other children, the language function of the two children was almost lost, and the development of the two children was obviously backward. Conclusion there is a mutation of MECP2 gene in 5 children with Rett syndrome, most of them are located on exon 4, and the mutation of MECP2 transcription inhibition region may affect the language function and development of the children.
【作者单位】：武汉市儿童医院中心实验室;武汉市儿童医院康复科;武汉市儿童医院神经内科;
【分类号】：R749.94

【参考文献】