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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Topçu, M., Akyerli, C., Sayi, A., Törüner, G.A., Koçoğlu, S.R., Cimbiş, M., Ozçelik, T. Eur. J. Hum. Genet. (2002) [Pubmed]
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