title: GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2.
abstract: BACKGROUND
  Maturity onset diabetes of the young type 2 (MODY) is an inherited disorder due to mutations in glucokinase (GCK) gene, which lead to mild fasting hyperglycemia.
  
  
  METHODS
  Herein an otherwise healthy 9-year old boy with hyperglycemia is presented in whom the diagnosis of MODY2 was suspected. Genetic studies showed heterozygous inactivating GCK gene mutation in exon 8 (c.1010delA) in this patient. The same mutation was found in his father as well. The patient received some dietary advices without any medication.
  
  
  CONCLUSIONS
  The identification of GCK mutation and diagnosis of MODY2 helps the clinicians to predict the disease course, prognosis and to exclude other types of diabetes.
authors.affiliation: Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Shahab
authors.initials: S
authors.lastname: Noorian
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Sayarifard
authors.forename: Elham
authors.initials: E
authors.lastname: Farhadi
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Barbetti
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
keywords: Diabetes; Fasting Hyperglycemia; GCK; Maturity-onset Diabetes