title: Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.
abstract: Rett 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.
authors.affiliation: Department of Pediatric Neurology, Hacettepe University School of Medicine, Sihhiye, Ankara 0600, Turkey.
authors.forename: Meral
authors.initials: M
authors.lastname: Topçu
authors.forename: Cemaliye
authors.initials: C
authors.lastname: Akyerli
authors.forename: Ayça
authors.initials: A
authors.lastname: Sayi
authors.forename: Gökçe A
authors.initials: GA
authors.lastname: Törüner
authors.forename: Süha R
authors.initials: SR
authors.lastname: Koçoğlu
authors.forename: Mine
authors.initials: M
authors.lastname: Cimbiş
authors.forename: Tayfun
authors.initials: T
authors.lastname: Ozçelik
mesh_terms: D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009030:Mosaicism / Q000235:genetics*; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins