Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

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dc.citation.epage81en_US
dc.citation.issueNumber1en_US
dc.citation.spage77en_US
dc.citation.volumeNumber10en_US
dc.contributor.authorTopçu, M.en_US
dc.contributor.authorAkyerli, C.en_US
dc.contributor.authorSayi, A.en_US
dc.contributor.authorTörüner, G. A.en_US
dc.contributor.authorKoçoǧlu, S. R.en_US
dc.contributor.authorCimbiş, M.en_US
dc.contributor.authorÖzçelik, T.en_US
dc.date.accessioned2016-02-08T10:33:31Z
dc.date.available2016-02-08T10:33:31Z
dc.date.issued2002en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstractRett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.en_US
dc.identifier.doi10.1038/sj/ejhg/5200745en_US
dc.identifier.issn1018-4813
dc.identifier.urihttp://hdl.handle.net/11693/24727
dc.language.isoEnglishen_US
dc.publisherNature Publishingen_US
dc.relation.isversionofhttp://dx.doi.org/10.1038/sj/ejhg/5200745en_US
dc.source.titleEuropean Journal of Human Geneticsen_US
dc.subjectMECP2en_US
dc.subjectRett syndromeen_US
dc.subjectSomatic mosaicismen_US
dc.subjectBinding proteinen_US
dc.subjectMethyl CpG binding protein 2en_US
dc.subjectUnclassified drugen_US
dc.subjectArticleen_US
dc.subjectCase reporten_US
dc.subjectChromosome analysisen_US
dc.subjectChromosome mosaicismen_US
dc.subjectClinical featureen_US
dc.subjectControlled studyen_US
dc.subjectDevelopmental disorderen_US
dc.subjectDisease associationen_US
dc.subjectDisease severityen_US
dc.subjectFemaleen_US
dc.subjectGene mutationen_US
dc.subjectHemizygosityen_US
dc.subjectHumanen_US
dc.subjectKaryotypeen_US
dc.subjectMaleen_US
dc.subjectNeurologic diseaseen_US
dc.subjectPhenotypeen_US
dc.subjectPriority journalen_US
dc.subjectRett syndromeen_US
dc.subjectSchool childen_US
dc.subjectX chromosome linkageen_US
dc.subjectChilden_US
dc.subjectChild, preschoolen_US
dc.subjectChromosomal proteins, non-histoneen_US
dc.subjectCodon, nonsenseen_US
dc.subjectDNA-binding proteinsen_US
dc.subjectHumansen_US
dc.subjectInfanten_US
dc.subjectInfant, newbornen_US
dc.subjectMaleen_US
dc.subjectMethyl-CpG-binding protein 2en_US
dc.subjectMosaicismen_US
dc.subjectRepressor proteinsen_US
dc.subjectRett syndromeen_US
dc.titleSomatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boyen_US
dc.typeArticleen_US

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