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Article: Rett syndrome: Prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders

TitleRett syndrome: Prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders
Authors
KeywordsAutism spectrum disorder
Epileptic encephalopathy
MECP2 mutation
Nonsyndromal mental retardation
Prevalence among Chinese children
Rett syndrome
Issue Date2007
PublisherSage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.com
Citation
Journal Of Child Neurology, 2007, v. 22 n. 12, p. 1397-1400 How to Cite?
AbstractRett syndrome is an X-linked dominant neurodevelopmental disorder. Mutation of the methyl-CpG-binding protein 2 gene (MECP2) is present in up to 96% of patients with Rett syndrome. Eight mutations represent the hotspot of MECP2 mutations (R106W, R133C, T158M, R168X, R255X, R270X, R294X, and R306C) in patients with classic Rett syndrome. The prevalence and survival rate of Rett syndrome among Chinese women was investigated. The 8 hotspot mutations and the A140V mutation were also studied in 4 cohorts of Chinese children (n = 144) actively followed up in our university neurodevelopmental center with classic Rett syndrome (n = 5), autism spectrum disorder (n = 94), epileptic encephalopathy of unknown cause (n = 22), and nonsyndromal mental retardation (n = 23). The prevalence of Rett syndrome among female Chinese younger than 35 years in Hong Kong West is 0.57 (95% confidence interval, 0.15-0.98) per 10 000. Survival is 100.0% at 10 years and 87.5% at 25 years. Three hotspot mutations (R106W, R255X, and R306C) were found in 3 girls with classic Rett syndrome. No hotspot MECP2 mutations were found in the other 3 cohorts. Screening of MECP2 mutations is not worthwhile in Chinese children with pure cognitive, autistic, or unexplained epileptic disorders without other signs of Rett syndrome. In the early stage of developmental arrest before developmental regression, MECP2 screening might be useful for girls with unexplained epileptic encephalopathy before full-blown classic Rett syndrome is evident. © 2007 Sage Publications.
Persistent Identifierhttp://hdl.handle.net/10722/143511
ISSN
2015 Impact Factor: 1.434
2015 SCImago Journal Rankings: 0.694
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorWong, VCNen_HK
dc.contributor.authorLi, SYHen_HK
dc.date.accessioned2011-12-12T03:51:22Z-
dc.date.available2011-12-12T03:51:22Z-
dc.date.issued2007en_HK
dc.identifier.citationJournal Of Child Neurology, 2007, v. 22 n. 12, p. 1397-1400en_HK
dc.identifier.issn0883-0738en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143511-
dc.description.abstractRett syndrome is an X-linked dominant neurodevelopmental disorder. Mutation of the methyl-CpG-binding protein 2 gene (MECP2) is present in up to 96% of patients with Rett syndrome. Eight mutations represent the hotspot of MECP2 mutations (R106W, R133C, T158M, R168X, R255X, R270X, R294X, and R306C) in patients with classic Rett syndrome. The prevalence and survival rate of Rett syndrome among Chinese women was investigated. The 8 hotspot mutations and the A140V mutation were also studied in 4 cohorts of Chinese children (n = 144) actively followed up in our university neurodevelopmental center with classic Rett syndrome (n = 5), autism spectrum disorder (n = 94), epileptic encephalopathy of unknown cause (n = 22), and nonsyndromal mental retardation (n = 23). The prevalence of Rett syndrome among female Chinese younger than 35 years in Hong Kong West is 0.57 (95% confidence interval, 0.15-0.98) per 10 000. Survival is 100.0% at 10 years and 87.5% at 25 years. Three hotspot mutations (R106W, R255X, and R306C) were found in 3 girls with classic Rett syndrome. No hotspot MECP2 mutations were found in the other 3 cohorts. Screening of MECP2 mutations is not worthwhile in Chinese children with pure cognitive, autistic, or unexplained epileptic disorders without other signs of Rett syndrome. In the early stage of developmental arrest before developmental regression, MECP2 screening might be useful for girls with unexplained epileptic encephalopathy before full-blown classic Rett syndrome is evident. © 2007 Sage Publications.en_HK
dc.languageengen_US
dc.publisherSage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.comen_HK
dc.relation.ispartofJournal of Child Neurologyen_HK
dc.subjectAutism spectrum disorderen_HK
dc.subjectEpileptic encephalopathyen_HK
dc.subjectMECP2 mutationen_HK
dc.subjectNonsyndromal mental retardationen_HK
dc.subjectPrevalence among Chinese childrenen_HK
dc.subjectRett syndromeen_HK
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAge Factorsen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChina/epidemiologyen_US
dc.subject.meshCohort Studiesen_US
dc.subject.meshDevelopmental Disabilities/*geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Frequencyen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshMethyl-CpG-Binding Protein 2/*geneticsen_US
dc.subject.meshMutation/*geneticsen_US
dc.subject.meshNervous System Diseases/*geneticsen_US
dc.subject.meshPrevalenceen_US
dc.subject.meshRett Syndrome/*epidemiology/*geneticsen_US
dc.subject.meshSex Factorsen_US
dc.subject.meshSurvival Analysisen_US
dc.subject.meshSurvival Rateen_US
dc.titleRett syndrome: Prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disordersen_HK
dc.typeArticleen_HK
dc.identifier.emailWong, VCN:vcnwong@hku.hken_HK
dc.identifier.authorityWong, VCN=rp00334en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1177/0883073807307091en_HK
dc.identifier.pmid18174559-
dc.identifier.scopuseid_2-s2.0-36749048049en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-36749048049&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume22en_HK
dc.identifier.issue12en_HK
dc.identifier.spage1397en_HK
dc.identifier.epage1400en_HK
dc.identifier.isiWOS:000251591400013-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridWong, VCN=7202525632en_HK
dc.identifier.scopusauthoridLi, SYH=12240088100en_HK

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