Topçu, M.Akyerli, C.Sayi, A.Törüner, G. A.Koçoǧlu, S. R.Cimbiş, M.Özçelik, T.2016-02-082016-02-0820021018-4813http://hdl.handle.net/11693/24727Rett 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.EnglishMECP2Rett syndromeSomatic mosaicismBinding proteinMethyl CpG binding protein 2Unclassified drugArticleCase reportChromosome analysisChromosome mosaicismClinical featureControlled studyDevelopmental disorderDisease associationDisease severityFemaleGene mutationHemizygosityHumanKaryotypeMaleNeurologic diseasePhenotypePriority journalRett syndromeSchool childX chromosome linkageChildChild, preschoolChromosomal proteins, non-histoneCodon, nonsenseDNA-binding proteinsHumansInfantInfant, newbornMaleMethyl-CpG-binding protein 2MosaicismRepressor proteinsRett syndromeArticle10.1038/sj/ejhg/5200745