IR@PKUHSC  > 北京大学第一临床医学院
学科主题临床医学
InterRett, a model for international data collection in a rare genetic disorder
Louise, Sandra1; Fyfe, Sue2; Bebbington, Ami1; Bahi-Buisson, Nadia3; Anderson, Alison1; Pineda, Merce4; Percy, Alan5; Zeev, Bruria Ben6; Wu, Xi Ru7; Bao, Xinhua7; Leod, Patrick Mac8; Armstrong, Judith4; Leonard, Helen1
关键词Rett syndrome International database Rare disorder MECP2 Phenotype
刊名RESEARCH IN AUTISM SPECTRUM DISORDERS
2009-07-01
DOI10.1016/j.rasd.2008.12.004
3期:3页:639-659
收录类别SSCI
文章类型Article
WOS标题词Social Sciences ; Science & Technology
类目[WOS]Education, Special ; Psychology, Developmental ; Psychiatry ; Rehabilitation
研究领域[WOS]Education & Educational Research ; Psychology ; Psychiatry ; Rehabilitation
关键词[WOS]X-CHROMOSOME INACTIVATION ; RETT-SYNDROME ; MECP2 GENE ; MUTATION ANALYSIS ; PHENOTYPE ; GENOTYPE ; FEMALES ; SEVERITY ; MANIFESTATIONS ; EPIDEMIOLOGY
英文摘要

Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian Rett syndrome database (ARSD). It also explored the strengths and limitations of InterRett in comparison with other studies. A literature review compared InterRett with RTT population-based and case-based studies of 30 or more cases that investigated genotype and/or phenotype relationships. Questionnaire data were used to determine case status and to investigate the comparability of InterRett and ARSD. Twenty-four case series, five Population-based studies and a MECP2 mutation database were identified of which 21 (70%) collected phenotype and genotype data. Only three studies were representative of their underlying case population and many had low numbers. Of 1114 InterRett subjects, 9 6 born after 1976 could be verified as Rett cases and compared with the 295 ARSD subjects. Although more InterRett families h,id higher education and occupation levels and their children were marginally less severe, the distribution of MECP2 mutation types was similar.

The InterRett can be used with confidence to investigate genotype phenotype associations and clinical variation in RTT and provides an exemplary international model for other rare disorders. (c) 2009 Elsevier Ltd. All rights reserved.

语种英语
WOS记录号WOS:000266512700007
引用统计
被引频次:24[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/68196
专题北京大学第一临床医学院
作者单位1.Curtin Univ Technol, Perth, WA, Australia
2.Hosp St Joan Deu, Barcelona, Spain
3.Safra Pediat Hosp, Sheba Med Ctr, Ramat Gan, Israel
4.Peking Univ, Hosp 1, Beijing 100871, Peoples R China
5.Victoria Gen Hosp, Victoria, BC, Canada
6.Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia
7.Univ Paris 05, Hop Necker Enfants Malad, Paris, France
8.Univ Alabama, Civitan Int Res Ctr, Birmingham, AL USA
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GB/T 7714
Louise, Sandra,Fyfe, Sue,Bebbington, Ami,et al. InterRett, a model for international data collection in a rare genetic disorder[J]. RESEARCH IN AUTISM SPECTRUM DISORDERS,2009,3(3):639-659.
APA Louise, Sandra.,Fyfe, Sue.,Bebbington, Ami.,Bahi-Buisson, Nadia.,Anderson, Alison.,...&Leonard, Helen.(2009).InterRett, a model for international data collection in a rare genetic disorder.RESEARCH IN AUTISM SPECTRUM DISORDERS,3(3),639-659.
MLA Louise, Sandra,et al."InterRett, a model for international data collection in a rare genetic disorder".RESEARCH IN AUTISM SPECTRUM DISORDERS 3.3(2009):639-659.
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