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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

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...

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Main Authors: Grasshoff, Ute (Author) , Bonin, Michael (Author) , Goehring, Ina (Author) , Ekici, Arif (Author) , Dufke, Andreas (Author) , Cremer, Kirsten (Author) , Wagner, Nicholas (Author) , Rossier, Eva (Author) , Jauch, Anna (Author) , Walter, Michael (Author) , Bauer, Claudia (Author) , Bauer, Peter (Author) , Horber, Karl (Author) , Beck-Woedl, Stefanie (Author) , Wieczorek, Dagmar (Author)
Format: Article (Journal)
Language:English
Published: 16 February 2011
In: European journal of human genetics
Year: 2011, Volume: 19, Issue: 5, Pages: 507-512
ISSN:1476-5438
DOI:10.1038/ejhg.2010.226
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ejhg.2010.226
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ejhg2010226
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Author Notes:Ute Grasshoff, Michael Bonin, Ina Goehring, Arif Ekici, Andreas Dufke, Kirsten Cremer, Nicholas Wagner, Eva Rossier, Anna Jauch, Michael Walter, Claudia Bauer, Peter Bauer, Karl Horber, Stefanie Beck-Woedl, and Dagmar Wieczorek
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Summary: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.
Item Description:Gesehen am 11.07.2022
Physical Description:Online Resource
ISSN:1476-5438
DOI:10.1038/ejhg.2010.226

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