MECP2 mutation screening in Swedish classical Rett syndrome females.
Rett syndrome (RS) is a neurodevelopmental disorder almost exclusively affecting females. We have studied the mutation spectrum of the responsible gene MECP2, encoding methyl-CpG-binding protein 2 (MeCP2), in 16 sporadic classical RS females from Sweden. In 13 of 16 patients (81%) we detected nonsen...
| Publicado en: | European Child & Adolescent Psychiatry Vol. 10; no. 2; pp. 117 - 122 |
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| Autores principales: | , , , , |
| Formato: | research tables/charts tracings Journal Article |
| Publicado: |
Springer Nature
2001
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=106920448&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 106920448 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10188827 EJ3 jtl: European Child & Adolescent Psychiatry issn: 10188827 maglogo: N pubinfo: dt: 2001 vid: 10 iid: 2 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 106920448 106920448 2002051398 10.1007/s007870170034 NLM11469283 106920448 ppf: 117 ppct: 5 formats: fmt: @attributes: type: P tig: atl: MECP2 mutation screening in Swedish classical Rett syndrome females. aug: au: Erlandson A Hallberg B Hagberg B Wahlström J Martinsson T affil: Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital/East 416 85 Gothenburg, Sweden sug: subj: Rett Syndrome Genetic Screening Mutation Sweden DNA Purposive Sample Descriptive Statistics Clinical Research Parents Polymerase Chain Reaction Funding Source Waveforms Convenience Sample Female Human Female ab: Rett syndrome (RS) is a neurodevelopmental disorder almost exclusively affecting females. We have studied the mutation spectrum of the responsible gene MECP2, encoding methyl-CpG-binding protein 2 (MeCP2), in 16 sporadic classical RS females from Sweden. In 13 of 16 patients (81%) we detected nonsense or missense mutations in the coding parts of MECP2. This mutation rate is in agreement with other reports (65-80%). In all, 12 different mutations and one polymorphism were found; three of the mutations have not been reported previously. The missense mutations were restricted to highly conserved regions of the gene. None of the mutations was detected in parents; thus, they had probably arisen de novo. In contrast, two normal variants, one intron deletion and one silent mutation, were seen singly only in two patients' mothers; neither has been reported previously. One patient showed two different mutations closely located, i.e. 802C > T (R268W) together with 808C > T (R270X). Another patient had a mutation in the stop codon 1459T > C (X487R), leading to a gene product prolonged with 27 amino acids. In conclusion, our results indicate that the majority of Swedish RS patients (81%) have mutations in MECP2 that are sporadic cases with de novo mutations. Moreover, both missense and nonsense mutations occur, but in different parts of the gene, probably reflecting the function of the domains in MeCP2. This study has improved our ability to offer these families an early confirmation of Rett diagnoses. pubtype: Academic Journal doctype: research tables/charts tracings Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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