GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F13%3A10210620" target="_blank" >RIV/00064203:_____/13:10210620 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/13:10210620

Result on the web

<a href="http://diabetes.diabetesjournals.org/content/62/3/993.long" target="_blank" >http://diabetes.diabetesjournals.org/content/62/3/993.long</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.2337/db12-0885" target="_blank" >10.2337/db12-0885</a>

Result language

angličtina

Original language name

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency

Original language description

We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated neonatal diabetes and exocrine pancreatic insufficiency requiring enzyme replacement therapy. We investigated the role of GATA6 mutations in 171 subjects with neonatal diabetes of unknown genetic etiology from a cohort of 795 patients with neonatal diabetes. Mutations in known genes had been confirmed in 624 patients (including 15 GATA6 mutations). Sequencing of the remaining 171 patients identified nine new case subjects (24 of 795, 3%). Pancreatic agenesis was present in 21 case subjects (six new); two patients had permanent neonatal diabetes with no enzyme supplementation and one had transient neonatal diabetes. Four parents with heterozygous GATA6 mutations were diagnosed with diabetes outside the neonatal period (12-46 years). Subclinical exocrine insufficiency was demonstrated by low fecal elastase in three of four diabetic pati

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

—

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

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

Name of the periodical

Diabetes

ISSN

0012-1797

e-ISSN

—

Volume of the periodical

62

Issue of the periodical within the volume

3

Country of publishing house

US - UNITED STATES

Number of pages

5

Pages from-to

993-997

UT code for WoS article

000315556400043

EID of the result in the Scopus database

—