title: 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.
authors.affiliation: Department of Medical Genetics, University of Tübingen, Tübingen, Germany. ute.grasshoff@med.uni-tuebingen.de
authors.forename: Ute
authors.initials: U
authors.lastname: Grasshoff
authors.forename: Michael
authors.initials: M
authors.lastname: Bonin
authors.forename: Ina
authors.initials: I
authors.lastname: Goehring
authors.forename: Arif
authors.initials: A
authors.lastname: Ekici
authors.forename: Andreas
authors.initials: A
authors.lastname: Dufke
authors.forename: Kirsten
authors.initials: K
authors.lastname: Cremer
authors.forename: Nicholas
authors.initials: N
authors.lastname: Wagner
authors.forename: Eva
authors.initials: E
authors.lastname: Rossier
authors.forename: Anna
authors.initials: A
authors.lastname: Jauch
authors.forename: Michael
authors.initials: M
authors.lastname: Walter
authors.forename: Claudia
authors.initials: C
authors.lastname: Bauer
authors.forename: Peter
authors.initials: P
authors.lastname: Bauer
authors.forename: Karl
authors.initials: K
authors.lastname: Horber
authors.forename: Stefanie
authors.initials: S
authors.lastname: Beck-Woedl
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D049951:X Chromosome Inactivation
chemical_list: D051783:Methyl-CpG-Binding Protein 2