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Three novel mutations in MODY and its phenotype in three different Czech families

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F10%3A00002493" target="_blank" >RIV/00216208:11120/10:00002493 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11140/10:00300112

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    Three novel mutations in MODY and its phenotype in three different Czech families

  • Original language description

    MODY (Maturity Onset Diabetes of the Young) is an autosomal dominant inherited type of diabetes with significant genetic heterogeneity. New mutations causing MODY are still being found. A genetically confirmed diagnosis of MODY allows application of individualized treatment based on the underlying concrete genetic dysfunction. Detection of novel MODY mutations helps provide a more complete picture of the possible MODY genotypes. Materials and methods: We tested 43 adult Czech patients with clinical characteristics of MODY, using direct sequencing of HNF1A (hepatocyte nuclear factor 1-alpha), HNF4A (hepatocyte nuclear factor 4-alpha) and GCK (glucokinase) genes. Results: In three Czech families we identified three novel mutations we believe causing MODY-two missense mutations in HNF1A [F268L (c.802T > C) and P291S (c.871C > T)] and one frame shift mutation in GCK [V244fsdelG (c.727-728delG)]. Some of the novel HNF1A mutation carriers were successfully transferred from insulin to gliclaz

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FB - Endocrinology, diabetology, metabolism, nutrition

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    Z - Vyzkumny zamer (s odkazem do CEZ)

Others

  • Publication year

    2010

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Diabetes Research and Clinical Practice

  • ISSN

    0168-8227

  • e-ISSN

  • Volume of the periodical

    88

  • Issue of the periodical within the volume

    2

  • Country of publishing house

    IE - IRELAND

  • Number of pages

    7

  • Pages from-to

  • UT code for WoS article

    000278426700002

  • EID of the result in the Scopus database