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

Ute Grasshoff (1) , Michael Bonin (1) , Ina Goehring (1) , Arif B Ekici (1) , Andreas Dufke (1) , Kirsten Cremer (1) , Eva Rossier (1) , Anna Jauch (1) , Michael Walter (1) , Claudia Bauer (1) , Peter Bauer (1) , Karl Horber (1) , Stefanie Beck-Woedl (1) , Nicholas Wagner (1) , Dagmar Wieczorek (1)

1 Medical Genetics

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. 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 X-inactivation, which can be assumed as the triggering factor for the phenotype. Furthermore, we describe the phenotype, which might be restricted to unspecific mild to moderate mental retardation with neurological features in early adulthood.

Mots clés: Xq28 duplication; MECP2; Mental Retardation in Females

Ute Grasshoff, Michael Bonin, Ina Goehring, Arif B Ekici, Andreas Dufke, et al.. De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.226⟩. ⟨hal-00614738⟩