title: The spectrum of HNF1A gene mutations in patients with MODY 3 phenotype and identification of three novel germline mutations in Turkish Population.
abstract: BACKGROUND
  Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset, and pancreatic beta cell dysfunction. Heterozygous mutations in several genes may cause MODY.
  
  
  METHODS
  In the present study, we investigated the molecular spectrum of HNF1A (hepatocyte nuclear factor 1a) mutations, in the individuals referred to a reference center for molecular genetic analysis. Mutations screening was performed in a group of 136 unrelated patients (average age 17.22 years) selected by clinical characterization of MODY. Mutation screening involved direct sequencing of the HNF1A gene.
  
  
  RESULTS
  Among 136 individuals analyzed, 10 were carrying heterozygous HNF1A mutations, 3 of them being novel. Clinical features, such as age of diabetes at diagnosis or severity of hyperglycemia, were not related to the mutation type or location. No clear phenotype - genotype correlations were identiﬁed.
  
  
  CONCLUSIONS
  As a conclusion MODY resulted from HNF1A mutations shows heterogeneity at both phenotypic and molecular levels in Turkish population.
authors.affiliation: Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey. Electronic address: karacaemin@gmail.com.
authors.forename: Emin
authors.initials: E
authors.lastname: Karaca
authors.affiliation: Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey.
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.affiliation: Department of Internal Medicine, Division of Endocrinology, Ege University Medical Faculty, Izmir, Turkey.
authors.forename: Sevki
authors.initials: S
authors.lastname: Cetinkalp
authors.affiliation: Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey.
authors.forename: Ayca
authors.initials: A
authors.lastname: Aykut
authors.affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, Ege University Medical Faculty Izmir, Turkey.
authors.forename: Damla
authors.initials: D
authors.lastname: Göksen
authors.affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, Ege University Medical Faculty Izmir, Turkey.
authors.forename: Samim
authors.initials: S
authors.lastname: Ozen
authors.affiliation: Division of Genetics, Department of Pediatrics, Ege University Medical Faculty Izmir, Turkey.
authors.forename: Tahir
authors.initials: T
authors.lastname: Atik
authors.affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, Ege University Medical Faculty Izmir, Turkey.
authors.forename: Sukran
authors.initials: S
authors.lastname: Darcan
authors.affiliation: Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey.
authors.forename: Ismihan Merve
authors.initials: IM
authors.lastname: Tekin
authors.affiliation: Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey.
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkınay
mesh_terms: D000293:Adolescent; D000328:Adult; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D014421:Turkey
chemical_list: C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha
keywords: HNF1A; MODY; Turkish population