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,
Dagmar Wieczorek
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ABSTRACT: 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: EJHG 02/2011; 19(5):507-12. · 3.56 Impact Factor
