title: Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.
abstract: A newborn Japanese girl with Kabuki syndrome had neonatal persistent hyperinsulinemic hypoglycemia, which seemed to be a rare complication of Kabuki syndrome. On sequence analysis she was found to have a novel heterozygous KMT2D mutation. Diazoxide therapy was effective for the hypoglycemia. Hypoglycemia should be considered when Kabuki syndrome patients have convulsion or other non-specific symptoms. Diazoxide may help to improve hypoglycemia in patients with Kabuki syndrome complicated with hyperinsulinemic hypoglycemia.
authors.affiliation: Department of Pediatrics, Sasebo Kyosai Hospital, Sasebo, Japan.
authors.forename: Yuji
authors.identifier: http://orcid.org/0000-0002-7295-4933
authors.initials: Y
authors.lastname: Gohda
authors.affiliation: Department of Pediatrics, Sasebo Kyosai Hospital, Sasebo, Japan.
authors.forename: Shohki
authors.initials: S
authors.lastname: Oka
authors.affiliation: Obstetrics and Gynecology, Matsunaga Clinic, Sasebo, Japan.
authors.forename: Takamoto
authors.initials: T
authors.lastname: Matsunaga
authors.affiliation: Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan.|Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Watanabe
authors.affiliation: Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan.
authors.forename: Koh-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.affiliation: Division of Developmental Disability, Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, Isahaya, Japan.
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Kondoh
authors.affiliation: Division of Developmental Disability, Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, Isahaya, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D001786:Blood Glucose; D044903:Congenital Hyperinsulinism / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D003981:Diazoxide / Q000627:therapeutic use*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006402:Hematologic Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009363:Neoplasm Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D015837:Vestibular Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*
chemical_list: D001786:Blood Glucose; D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins; D003981:Diazoxide
keywords: KMT2D; Kabuki syndrome; diazoxide; hyperinsulinism; hypoglycemia