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.
Pubmed ID: 11896459 RIS Download
Mesh terms: Child | Child, Preschool | Chromosomal Proteins, Non-Histone | Codon, Nonsense | DNA-Binding Proteins | Humans | Infant | Infant, Newborn | Male | Methyl-CpG-Binding Protein 2 | Mosaicism | Repressor Proteins | Rett Syndrome
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