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

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.

SUBMITTER: Grasshoff U

PROVIDER: S-EPMC3083613 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature

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

Grasshoff Ute U Bonin Michael M Goehring Ina I Ekici Arif A Dufke Andreas A Cremer Kirsten K Wagner Nicholas N Rossier Eva E Jauch Anna A Walter Michael M Bauer Claudia C Bauer Peter P Horber Karl K Beck-Woedl Stefanie S Wieczorek Dagmar D

European journal of human genetics : EJHG 20110216 5

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 ...[more]

PMID: 21326285

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