Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age.

ABSTRACT:

Background

Maturity-onset diabetes of the young (MODY) is commonly misdiagnosed as type 1 or type 2 diabetes. Common reasons for misdiagnosis are related to limitations in genetic testing. A precise molecular diagnosis is essential for the optimal treatment of patients and allows for early diagnosis of their asymptomatic family members.

Objective

The aim of this study was to identify rare monogenic variants of common MODY genes in Japanese pediatric patients.

Methods

We investigated 45 Japanese pediatric patients based on the following clinical criteria: development of diabetes before 17 years of age, a family history of diabetes, testing negative for glutamate decarboxylase-65 (GAD 65) antibodies and insulinoma-2-associated autoantibodies (IA-2A), no significant obes

SUBMITTER: Katashima R 

PROVIDER: S-EPMC8570896 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature