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

Result code in 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>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

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

Original language description

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.

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

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

Continuities

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

Publication year

2010

Confidentiality

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

Name of the periodical

Pediatric Diabetes

ISSN

1399-5448

e-ISSN

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Volume of the periodical

11

Issue of the periodical within the volume

8

Country of publishing house

US - UNITED STATES

Number of pages

7

Pages from-to

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UT code for WoS article

000284854900004

EID of the result in the Scopus database

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