现代医药卫生Issue(11)：1613-1616,4.DOI:10.3969/j.issn.1009-5519.2015.11.005
Rett综合征临床分析及甲基化CpG结合蛋白-2基因调查
Clinical analysis of Rett syndrome and a research of methylation CpG binding protein-2 gene
程芹 1吕康模 2康涵 3邓佳 3刘平 3蒋利萍3
作者信息
- 1. 重庆医科大学，重庆400016
- 2. 重庆医科大学附属成都市妇女儿童中心医院，四川 610031
- 3. 重庆医科大学附属成都市妇女儿童中心医院，四川 610031
- 折叠
摘要
Abstract
Objective To explore methylation CpG binding protein-2 gene mutation′s pathopoiesia effect on 4 suspected Rett syndrome (RTT) patients and gene sequencing′s significance in assist diagnosing RTT. Methods Selected 4 suspected RTT patients admitted in Chengdu Women′s&Children′s Central Hospital from April to August,2014,i.e. case 1,2,3,4. Case 1 was fam-ily propositus,case 2 was case 1′s mother,case 3 and 4 were sporadic patients,pedigree was successively A,B,C. Did clinical data analysis,pedigree investigation,karyotype analysis on 4 patients. Did polymerase chain reaction amplification sequencing on patients and their parents' MECP2 gene. Results Case 1 and 4 were confirmed by the latest 2010 Revised RTT diagnostic criteria and genet-ic diagnosis. Case 2 and 3′s clinical diagnosis was disconfirmed but virulence gene mutation was discovered. Case 1 and 2 were the first case that mother and daughter both had RTT in our country,and their MECP2 gene sequencing was the same mutation site that has not been reported in our country. Pathogenic site mutation that has been reported was discovered in case 3 and 4′s pedigree. Con-clusion RTT clinical diagnosis might be different from gene diagnosis. Gene diagnosis has a great value in confirming RTT ,espe-cially those have nontypical clinical symptoms. Suspected patients can reduce medical cost, start rehabilitation training early,and assist prepotency by complete gene diagnosis at an early stage.关键词
Rett综合征/基因/序列分析/遗传咨询/甲基化CpG结合蛋白-2Key words
Rett syndrome/Genes/Sequence analysis/Genetic counseling/Methyl CpG binding protein 2引用本文复制引用
程芹,吕康模,康涵,邓佳,刘平,蒋利萍..Rett综合征临床分析及甲基化CpG结合蛋白-2基因调查[J].现代医药卫生,2015,(11):1613-1616,4.
