北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 儿科  > 期刊论文
学科主题: 临床医学
题名:
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome
作者: Li, Mei-rong; Pan, Hong; Bao, Xin-Hua; Zhang, Yu-Zhi; Wu, Xi-Ru
关键词: Rett syndrome ; MECP2 ; CDKL5 ; mutation analysis ; recurrent mutations
刊名: JOURNAL OF HUMAN GENETICS
发表日期: 2007
DOI: 10.1007/s10038-006-0079-0
卷: 52, 期:1, 页:38-47
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: GROSS REARRANGEMENTS ; MENTAL-RETARDATION ; JAPANESE PATIENTS ; INFANTILE SPASMS ; LARGE DELETIONS ; EXON-1 ; POLYMORPHISMS ; DISORDER ; SEQUENCE ; FEMALES
英文摘要:

Rett syndrome (RTT) is a progressive neurodevelopmental disorder that is caused by mutations in the X-linked methyl-CpG-binding protein2 (MECP2) gene. In this study, the MECP2 sequences in 121 unrelated Chinese patients with classical or atypical RTT were screened for deletions and mutations. In all, we identified 45 different MECP2 mutations in 102 of these RTT patients. The p. T158M mutation (15.7%) was the most common, followed in order of frequency by p. R168X (11.8%), p. R133C (6.9%), p. R270X (6.9%), p. G269fs (6.9%), p. R255X (4.9%), and p. R306C (3.9%). In addition, we identified five novel MECP2 mutations: three missense (p. K305E, p. V122M, p. A358T), one insertion (c.45-46insGGAGGA), and one 22 bp deletion (c.881-902del22). Large deletions represented 10.5% of all identified MECP2 mutations. Conversely, mutations in exon 1 appeared to be rare (0.9%). The remaining cases without MECP2 mutations were screened for the cyclin-dependent kinase-like 5 (CDKL5) gene using denaturing high-performance liquid chromatography (DHPLC). One synonymous mutation (p. I72I) was found in exon 5, suggesting that CDKL5 is a rare cause of RTT. The overall MECP2 mutation detection rate for this patient series was 84.3:87.9% in 107 classical RTT cases and 57.1% in 14 atypical RTT cases. Moreover, there were two patients with homozygous mutations and normal female karyotypes. However, we did not pinpoint a significant relationship between genotype and phenotype in these cases.

语种: 英语
WOS记录号: WOS:000242853400005
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/54821
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
Li, Mei-rong,Pan, Hong,Bao, Xin-Hua,et al. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome[J]. JOURNAL OF HUMAN GENETICS,2007,52(1):38-47.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Li, Mei-rong]'s Articles
[Pan, Hong]'s Articles
[Bao, Xin-Hua]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Li, Mei-rong]‘s Articles
[Pan, Hong]‘s Articles
[Bao, Xin-Hua]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit
所有评论 (0)
暂无评论
 
评注功能仅针对注册用户开放,请您登录
您对该条目有什么异议,请填写以下表单,管理员会尽快联系您。
内 容:
Email:  *
单位:
验证码:   刷新
您在IR的使用过程中有什么好的想法或者建议可以反馈给我们。
标 题:
 *
内 容:
Email:  *
验证码:   刷新

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace