Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations.

ABSTRACT:

Background

Maturity-onset diabetes of the young (MODY) is a rare monogenic type of diabetes, and accounts for 2-5% of all diabetes cases. An early age of onset, a family history supporting autosomaldominant inheritance, insulin resistance, and the absence of autoimmunity are the major characteristics of MODY. However, genetic testing is crucial for diagnosis.

Aims

To investigate the 7 MODY-related genes and clinical findings of patients with a preliminary clinical diagnosis of MODY.

Study design

Retrospective cross-sectional study.

Methods

In this study, 7 genes (KCNJ11, ABCC8, INS, GCK, HNF4A, HNF1A, and HNF1B) related to MODY were screened via targeted sequencing in 182 cases with a confirmed pre-diagnosis of MODY. The clinical characteristics of the patients

SUBMITTER: Ates EA 

PROVIDER: S-EPMC8880849 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature