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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| Hauptverfasser: | , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
16 February 2011
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| In: |
European journal of human genetics
Year: 2011, Jahrgang: 19, Heft: 5, Pages: 507-512 |
| ISSN: | 1476-5438 |
| DOI: | 10.1038/ejhg.2010.226 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ejhg.2010.226 Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ejhg2010226 
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| Verfasserangaben: | 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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| 245 | 1 | 0 | |a De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation |c 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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| 520 | |a 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. | ||
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| 650 | 4 | |a Gene duplication | |
| 650 | 4 | |a Neurological disorders | |
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| 700 | 1 | |a Goehring, Ina |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ekici, Arif |e VerfasserIn |4 aut | |
| 700 | 1 | |a Dufke, Andreas |e VerfasserIn |4 aut | |
| 700 | 1 | |a Cremer, Kirsten |e VerfasserIn |4 aut | |
| 700 | 1 | |a Wagner, Nicholas |e VerfasserIn |4 aut | |
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| 700 | 1 | |a Beck-Woedl, Stefanie |e VerfasserIn |4 aut | |
| 700 | 1 | |a Wieczorek, Dagmar |e VerfasserIn |4 aut | |
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