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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/10:6181

Výsledek na webu

—

DOI - Digital Object Identifier

—

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

—

Projekt

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

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2010

Kód důvěrnosti údajů

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

Název periodika

BMC Medical Genetics

ISSN

1471-2350

e-ISSN

—

Svazek periodika

11

Číslo periodika v rámci svazku

42

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

4

Strana od-do

—

Kód UT WoS článku

000276394100001

EID výsledku v databázi Scopus

—