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

Result code in 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>

Alternative codes found

RIV/00216208:11130/14:10292751

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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

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/NT11402" target="_blank" >NT11402: Genetic investigation of monogenic diabetes in the Czech Republic: Evaluation of clinical symptoms, treatment and quality of life</a><br>

Continuities

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

Publication year

2014

Confidentiality

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

Name of the periodical

Diabetologia

ISSN

0012-186X

e-ISSN

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Volume of the periodical

57

Issue of the periodical within the volume

3

Country of publishing house

DE - GERMANY

Number of pages

5

Pages from-to

480-484

UT code for WoS article

000331558400007

EID of the result in the Scopus database

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