Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F10%3A6181" target="_blank" >RIV/00064203:_____/10:6181 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/10:6181

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

Original language description

Background: Insulin gene (INS) mutations have recently been described as a common cause of permanent neonatal diabetes (PNDM) and a rare cause of diabetes diagnosed in childhood or adulthood. Methods: INS was sequenced in 116 maturity-onset diabetes of the young (MODYX) patients (n = 48 Danish and n = 68 Czech), 83 patients with gestational diabetes mellitus (GDM), 34 type 1 diabetic patients screened negative for glutamic acid decarboxylase (GAD), and 96 glucose tolerant individuals. The control groupwas randomly selected from the population-based sampled Inter99 study. Results: One novel heterozygous mutation c. 17G>A, R6H, was identified in the pre-proinsulin gene (INS) in a Danish MODYX family. The proband was diagnosed at 20 years of age with mild diabetes and treated with diet and oral hypoglycaemic agent. Two other family members who carried the INS R6H were diagnosed with diabetes when 51 years old and with GDM when 27 years old, respectively. A fourth mutation carrier had nor

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

EB - Genetics and molecular biology

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

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2010

Confidentiality

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

Name of the periodical

BMC Medical Genetics

ISSN

1471-2350

e-ISSN

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Volume of the periodical

11

Issue of the periodical within the volume

42

Country of publishing house

GB - UNITED KINGDOM

Number of pages

4

Pages from-to

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UT code for WoS article

000276394100001

EID of the result in the Scopus database

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