A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations

A. K. Ovsyannikova, O. D. Rymar, D. E. Ivanoshchuk, Svetlana V. Mikhailova, E. V. Shakhtshneider, P. S. Orlov, E. S. Malakhina, M. I. Voevoda

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    6 Citations (Scopus)

    Abstract

    Diabetes mellitus with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. The MODY phenotype is associated with gene mutations leading to pancreatic β-cell dysfunction. Here, we present the clinical case of a 50-year-old proband with familial diabetes mellitus in five generations (proband, her mother, grandmother, great-grandfather, and son). This disease is most likely associated with the novel Ser6Arg mutation in the HNF1A gene, which was identified in four family members. The mutation was not detected in MODY patients (126 subjects), in patients with type 2 diabetes mellitus (188 subjects), and in a general population sample (564 subjects).

    Original languageEnglish
    Pages (from-to)413-420
    Number of pages8
    JournalDiabetes Therapy
    Volume9
    Issue number1
    DOIs
    Publication statusPublished - 1 Feb 2018

    Keywords

    • Family history
    • HNF1A
    • Hyperglycemia
    • Insulin
    • Maturity onset diabetes of the young
    • MODY3
    • CLINICAL-DIAGNOSIS
    • HNF4A
    • PREVALENCE

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