Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
Törüner, G. A.
Koçoǧlu, S. R.
European Journal of Human Genetics
77 - 81
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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.
Methyl CpG binding protein 2
X chromosome linkage
Chromosomal proteins, non-histone
Methyl-CpG-binding protein 2
Published Version (Please cite this version)http://dx.doi.org/10.1038/sj/ejhg/5200745
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