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Eur J Hum Genet. 2002 Jan;10(1):77-81.

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

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Department of Pediatric Neurology, Hacettepe University School of Medicine, Sihhiye, Ankara 0600, Turkey.


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.

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