Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young.

ABSTRACT:

Objective

To determine the pathogenic gene and explore the clinical characteristics of maturity-onset diabetes of the young type 2 (MODY2) pedigree caused by a mutation in the glucokinase (GCK) gene.

Methods

Using whole-exome sequencing (WES), the pathogenic gene was detected in the proband-a 20-year-old young man who was accidentally found with hyperglycemia, no ketosis tendency, and a family history of diabetes. The family members of the proband were examined. In addition, relevant clinical data were obtained and genomic DNA from peripheral blood was obtained. Pathologic variants of the candidate were verified by Sanger sequencing technology, and cosegregation tests were conducted among other family members and non-related healthy controls. After adjusting the treat

SUBMITTER: Li J 

PROVIDER: S-EPMC8374143 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature