Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F10%3A6711" target="_blank" >RIV/00216208:11130/10:6711 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

Popis výsledku v původním jazyce

Glucokinase diabetes (GCK-MODY, MODY2) is caused by heterozygous mutations in the gene GCK. We investigated the current prevalence of GCK mutations in a cohort of 140 Czech patients with typical clinical appearance of GCK-MODY. We also reanalyzed the negative results obtained previously by dHPLC screening. A mutation in GCK was identified in 103 probands (74%). Several mutations were detected in multiple families: p.Glu40Lys, p.Gly318Arg, p.Leu315His and p.Val33Ala. Direct sequencing detected a GCK mutations in 9 of 20 previously dHPLC-negative samples; the sensitivity of the dHPLC screening was 84%. The study confirmed the effectiveness of carefully applied clinical criteria prior to genetic testing. In the Czech MODY registry, GCK-MODY represents thebiggest subgroup (35%). We report several prevalent GCK mutations with a likely founder. Moreover, our results provide ground for a possible recommendation to reinspect all negative results previously obtained by dHPLC screening.

Název v anglickém jazyce

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

Popis výsledku anglicky

Glucokinase diabetes (GCK-MODY, MODY2) is caused by heterozygous mutations in the gene GCK. We investigated the current prevalence of GCK mutations in a cohort of 140 Czech patients with typical clinical appearance of GCK-MODY. We also reanalyzed the negative results obtained previously by dHPLC screening. A mutation in GCK was identified in 103 probands (74%). Several mutations were detected in multiple families: p.Glu40Lys, p.Gly318Arg, p.Leu315His and p.Val33Ala. Direct sequencing detected a GCK mutations in 9 of 20 previously dHPLC-negative samples; the sensitivity of the dHPLC screening was 84%. The study confirmed the effectiveness of carefully applied clinical criteria prior to genetic testing. In the Czech MODY registry, GCK-MODY represents thebiggest subgroup (35%). We report several prevalent GCK mutations with a likely founder. Moreover, our results provide ground for a possible recommendation to reinspect all negative results previously obtained by dHPLC screening.

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/7F09015" target="_blank" >7F09015: Infections in the pathogenesis of type 1 diabetes: The MIDIA study</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2010

Kód důvěrnosti údajů

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

Název periodika

Pediatric Diabetes

ISSN

1399-5448

e-ISSN

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Svazek periodika

11

Číslo periodika v rámci svazku

8

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

7

Strana od-do

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Kód UT WoS článku

000284854900004

EID výsledku v databázi Scopus

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