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学科主题: 临床医学
题名:
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
作者: Fehr, Stephanie1; Wilson, Meredith2,3,4; Downs, Jenny1,5,6; Williams, Simon7; Murgia, Alessandra8; Sartori, Stefano8; Vecchi, Marilena8; Ho, Gladys2,3,4; Polli, Roberta8; Psoni, Stavroula9; Bao, Xinhua10; de Klerk, Nick1; Leonard, Helen1; Christodoulou, John2,3,4
关键词: CDKL5 ; Rett syndrome ; dysmorphology ; natural history ; phenotype
刊名: EUROPEAN JOURNAL OF HUMAN GENETICS
发表日期: 2013-03-01
DOI: 10.1038/ejhg.2012.156
卷: 21, 期:3, 页:266-273
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Biochemistry & Molecular Biology ; Genetics & Heredity
研究领域[WOS]: Biochemistry & Molecular Biology ; Genetics & Heredity
关键词[WOS]: KINASE-LIKE 5 ; SEVERE MENTAL-RETARDATION ; RETT-SYNDROME ; EPILEPTIC ENCEPHALOPATHY ; INFANTILE SPASMS ; INTRACTABLE EPILEPSY ; INTERSTITIAL DELETION ; DIAGNOSTIC-CRITERIA ; MUTATIONS ; GENE
英文摘要:

The clinical understanding of the CDKL5 disorder remains limited, With most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (Rh). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of CDKL5 patients were examined for dysmorphic features. The proportion of CDKL5 patients meeting the recent Neul criteria for atypical Rh T was determined. Logistic regression and time-to-event analyses were used to compare the occurrence of Rett-like features in those with MECP2 and CDKL5 mutations. Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. Less than one-quarter met the criteria for early-onset seizure variant Rh. Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been described in association with the early-onset variant of RTT, in our study the majority did not meet these criteria. Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant. European Journal of Human Genetics (2013) 21, 266-273; doi:10.1038/ejhg.2012.156; published online 8 August 2012

语种: 英语
所属项目编号: 572568 ; 570752 ; 2010-0724
项目资助者: International Rett Syndrome Foundation (IRSF previously IRSA) ; NHMRC ; University of Western Australia ; Fondazione Cariplo
WOS记录号: WOS:000315754800006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52425
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Univ Athens, Athens, Greece
2.Univ Sydney, Discipline Genet Med, Sydney, NSW 2006, Australia
3.Curtin Univ Technol, Sch Physiotherapy, Perth, WA, Australia
4.Univ Padua, Dept Pediat, Padua, Italy
5.Univ Western Australia, Telethon Inst Child Hlth Res, Ctr Child Hlth Res, Perth, WA 6009, Australia
6.Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia
7.Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia
8.Curtin Univ Technol, Curtin Hlth Innovat Res Inst, Perth, WA, Australia
9.Princess Margaret Hosp, Dept Neurol & Rehabil, Perth, WA, Australia
10.Peking Univ, Dept Pediat, Hosp 1, Beijing 100871, Peoples R China

Recommended Citation:
Fehr, Stephanie,Wilson, Meredith,Downs, Jenny,et al. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy[J]. EUROPEAN JOURNAL OF HUMAN GENETICS,2013,21(3):266-273.
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