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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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Hauptverfasser: Grasshoff, Ute (VerfasserIn) , Bonin, Michael (VerfasserIn) , Goehring, Ina (VerfasserIn) , Ekici, Arif (VerfasserIn) , Dufke, Andreas (VerfasserIn) , Cremer, Kirsten (VerfasserIn) , Wagner, Nicholas (VerfasserIn) , Rossier, Eva (VerfasserIn) , Jauch, Anna (VerfasserIn) , Walter, Michael (VerfasserIn) , Bauer, Claudia (VerfasserIn) , Bauer, Peter (VerfasserIn) , Horber, Karl (VerfasserIn) , Beck-Woedl, Stefanie (VerfasserIn) , Wieczorek, Dagmar (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 16 February 2011
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
Volltext
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
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 11.07.2022
Beschreibung:Online Resource
ISSN:1476-5438
DOI:10.1038/ejhg.2010.226

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