Abstract

Background: Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant disease, caused by muta-tions in the ABCC8 gene, chromosome 11.
Methods: A case suspected of MODY due to an ABCC8 mutation was examined using whole-genome exon high-throughput sequencing. Selected variant sites were validated via Sanger sequencing.
Results: A heterozygous mutation c.2060C>T (p.T687M) in exon 15 of the ABCC8 gene (Chr11-174494701) was identified in both the proband and the father. This mutation was initially linked to MODY based on clinical fea¬tures.
Conclusions: For patients with high suspicion of MODY, genetic test should conducted to improve their quality of life.

DOI: 10.7754/Clin.Lab.2024.240537