Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes.

Meng LiSiqian GongXueyao HanSimin ZhangQian RenXiaoling CaiYingying LuoLingli ZhouRui ZhangWei LiuYu ZhuXianghai ZhouYanfang SunYufeng LiYumin MaXiantong Zou

Published in: Journal of diabetes (2021)

Using targeted exon sequencing followed by pathogenicity analysis, we could be able to make genetic diagnoses for eight (1.5%) patients with ABCC8-MODY. The phenotype was variable with higher risk of diabetic microvascular complications. Genetic diagnosis is conducive for facilitating the personalized treatment of ABCC8-MODY.

Keyphrases

early onset
type diabetes
late onset
genome wide
cardiovascular disease
copy number
risk factors
glycemic control
metabolic syndrome
gene expression
cystic fibrosis
adipose tissue
skeletal muscle
insulin resistance
candida albicans