title: A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.
abstract: Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C > T [p.Gln4322*] ) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene.
authors.affiliation: Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Can Ebru
authors.initials: CE
authors.lastname: Bekircan-Kurt
authors.affiliation: Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Pelin Özlem
authors.initials: PÖ
authors.lastname: Şimşek-Kiper
authors.affiliation: Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Koray
authors.initials: K
authors.lastname: Boduroğlu
authors.affiliation: Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Neşe
authors.initials: N
authors.lastname: Dericioğlu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D004268:DNA-Binding Proteins / Q000235:genetics*; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology*; D005145:Face / Q000002:abnormalities*; D006402:Hematologic Diseases / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D015837:Vestibular Diseases / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins
keywords: EEG; Kabuki syndrome; MLL2; epilepsy; novel genetic mutation