De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10292751" target="_blank" >RIV/00064203:_____/14:10292751 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/14:10292751

Výsledek na webu

<a href="http://dx.doi.org/10.1007/s00125-013-3119-2" target="_blank" >http://dx.doi.org/10.1007/s00125-013-3119-2</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00125-013-3119-2" target="_blank" >10.1007/s00125-013-3119-2</a>

Jazyk výsledku

angličtina

Název v původním jazyce

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

Popis výsledku v původním jazyce

MODY is mainly characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. However, de novo mutations have been reported anecdotally. The aim of this study was to systematically revisit a large collection of MODY patients to determine the minimum prevalence of de novo mutations in the most prevalent MODY genes (i.e. GCK, HNF1A, HNF4A). Analysis of 922 patients from two national MODY centres (Slovakia and the Czech Republic) identified 150 probands (16%) who came from pedigrees that did not fulfil the criterion of two generations with diabetes but did fulfil the remaining criteria. The GCK, HNF1A and HNF4A genes were analysed by direct sequencing. Mutations in GCK, HNF1A or HNF4Agenes were detected in 58 of 150 individuals. Parents of 28 probands were unavailable for further analysis, and in 19 probands the mutation was inherited from an asymptomatic parent. In 11 probands the mutations arose de novo. In our coho

Název v anglickém jazyce

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

Popis výsledku anglicky

MODY is mainly characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. However, de novo mutations have been reported anecdotally. The aim of this study was to systematically revisit a large collection of MODY patients to determine the minimum prevalence of de novo mutations in the most prevalent MODY genes (i.e. GCK, HNF1A, HNF4A). Analysis of 922 patients from two national MODY centres (Slovakia and the Czech Republic) identified 150 probands (16%) who came from pedigrees that did not fulfil the criterion of two generations with diabetes but did fulfil the remaining criteria. The GCK, HNF1A and HNF4A genes were analysed by direct sequencing. Mutations in GCK, HNF1A or HNF4Agenes were detected in 58 of 150 individuals. Parents of 28 probands were unavailable for further analysis, and in 19 probands the mutation was inherited from an asymptomatic parent. In 11 probands the mutations arose de novo. In our coho

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

<a href="/cs/project/NT11402" target="_blank" >NT11402: Vyšetřování genů způsobujících monogenní diabetes ve skupině českých pacientů s diabetem a hodnocení vlivu nalezené mutace na klinický stav pacientů, jejich léčbu a kvalitu života</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

Diabetologia

ISSN

0012-186X

e-ISSN

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Svazek periodika

57

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

5

Strana od-do

480-484

Kód UT WoS článku

000331558400007

EID výsledku v databázi Scopus

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