title: Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
abstract: BACKGROUND
  Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34.
  
  
  RESULTS
  We report on a 3-year-old girl with characteristic symptoms of Kleefstra syndrome. Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1. Sequence analysis characterized it as an intragenic tandem duplication leading to a frame shift with a premature stop codon in EHMT1.
  
  
  CONCLUSIONS
  This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.
authors.affiliation: Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.
authors.forename: Eva Maria Christina
authors.initials: EM
authors.lastname: Schwaibold
authors.affiliation: Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.
authors.forename: Mateja
authors.initials: M
authors.lastname: Smogavec
authors.affiliation: Department of Pediatrics and Pediatric Neurology, Georg August University, Robert-Koch-Str. 40, 37075 Göttingen, Germany.
authors.forename: Elke
authors.initials: E
authors.lastname: Hobbiebrunken
authors.affiliation: Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.
authors.forename: Lorenz
authors.initials: L
authors.lastname: Winter
authors.affiliation: Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.
authors.forename: Barbara
authors.initials: B
authors.lastname: Zoll
authors.affiliation: Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Burfeind
authors.affiliation: Department of Pediatrics and Pediatric Neurology, Georg August University, Robert-Koch-Str. 40, 37075 Göttingen, Germany.
authors.forename: Knut
authors.initials: K
authors.lastname: Brockmann
authors.affiliation: Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.
authors.forename: Silke
authors.initials: S
authors.lastname: Pauli
keywords: Array CGH; EHMT1; Haploinsufficiency; Intragenic duplication; KS; Kleefstra syndrome