Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 19, Issue 5, Pages 507-512Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2010.226
Keywords
Xq28 duplication; MECP2; X-inactivation; mental retardation in females
Funding
- German Federal Ministry of Education and Research (BMBF) as a part of the National Genome Research Network [01GS08164, 01GS0816, 01GS08168, 01GS08162]
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Xq28 duplications including MECP2 are a well-known cause of severe mental retardation in males with seizures, muscular hypotonia, progressive spasticity, poor speech and recurrent infections that often lead to early death. Female carriers usually show a normal intellectual performance due to skewed X-inactivation (XCI). We report on two female patients with a de novo MECP2 duplication associated with moderate mental retardation. In both patients, the de novo duplication occurred on the paternal allele, and both patients show a random XCI, which can be assumed as the triggering factor for the phenotype. Furthermore, we describe the phenotype that might be restricted to unspecific mild-to -moderate mental retardation with neurological features in early adulthood. European Journal of Human Genetics (2011) 19, 507-512; doi:10.1038/ejhg.2010.226; published online 16 February 2011
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