Birthweight correlates with later metabolic abnormalities in Chinese patients with maturity-onset diabetes of the young type 2.

ABSTRACT:

Purpose

Glucokinase-maturity onset diabetes of the young (GCK-MODY), also known as MODY2, is caused by heterozygous inactivating mutations in the GCK gene. The aim of this study is to investigate the relationship of birthweight and cardiometabolic characteristics in MODY2 patients.

Methods

Genetic screening for GCK mutations from 192 classical MODY families was performed, and birthweight and clinical profiles of 76 patients from 25 families with identified GCK mutations were collected.

Results

Mutations in GCK were identified in 25 (13%) of the 192 families. Four novel (c.1334 G > C, c.1289_1294delTGACGC, c.584 T > C, and c.30delC) and twenty-one previously reported mutations were identified and cosegregated with the clinical phenotypes of MODY2 within the pedigrees.

SUBMITTER: Fu J 

PROVIDER: S-EPMC6606659 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature