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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11140/10:00300112

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FB - Endokrinologie, diabetologie, metabolismus, výživa

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2010

Kód důvěrnosti údajů

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

Název periodika

Diabetes Research and Clinical Practice

ISSN

0168-8227

e-ISSN

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Svazek periodika

88

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

IE - Irsko

Počet stran výsledku

7

Strana od-do

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Kód UT WoS článku

000278426700002

EID výsledku v databázi Scopus

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