RESUMEN

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.

Asunto(s)

Proteínas Cromosómicas no Histona , Proteínas de Unión al ADN/genética , Mosaicismo/genética , Proteínas Represoras , Síndrome de Rett/genética , Niño , Preescolar , Codón sin Sentido , Humanos , Lactante , Recién Nacido , Masculino , Proteína 2 de Unión a Metil-CpG