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

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

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DOI - Digital Object Identifier

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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

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FB - Endocrinology, diabetology, metabolism, nutrition

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2010

Confidentiality

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

Name of the periodical

Diabetes Research and Clinical Practice

ISSN

0168-8227

e-ISSN

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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

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UT code for WoS article

000278426700002

EID of the result in the Scopus database

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