title: Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.
abstract: BACKGROUND
  Kabuki syndrome is a rare condition characterized by distinct dysmorphic features and a broad spectrum of organ anomalies. Differentiating it from other syndromes can be difficult, particularly in patients with incomplete phenotypic manifestation. Recently, MLL2 gene mutations were identified as the underlying genetic cause of Kabuki syndrome in the majority of cases.
  
  
  METHODS
  We report the case of an adolescent with an uncommon combination of manifestations, including hypogammaglobulinemia and severe chronic thrombopenia associated with a novel MLL2 mutation.
  
  
  CONCLUSIONS
  This report adds to the growing knowledge on the mutational and phenotypic spectrum of Kabuki syndrome.
authors.affiliation: Department of Pediatrics, University of Erlangen-Nürnberg, Erlangen, Germany.
authors.forename: Florian
authors.initials: F
authors.lastname: Brackmann
authors.forename: Manuela
authors.initials: M
authors.lastname: Krumbholz
authors.forename: Thorsten
authors.initials: T
authors.lastname: Langer
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Rascher
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Holter
authors.forename: Markus
authors.initials: M
authors.lastname: Metzler
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D006402:Hematologic Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA; D012867:Skin / Q000473:pathology; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics*; D015837:Vestibular Diseases / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins