Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes.

Siyu SunSiqian GongMeng LiXirui WangFang WangXiaoling CaiWei LiuYingying LuoSimin ZhangRui ZhangLingli ZhouYu ZhuYumin MaQian RenXiuying ZhangJing ChenLing ChenJing WuLeili GaoXianghai ZhouYufeng LiLiyong ZhongXueyao HanXiantong Zou

Published in: Endocrine (2023)

CEL-MODY is a very rare disease caused by frameshift mutations affecting the proximal VNTR segments of the CEL gene. Signs of exocrine pancreatic dysfunction provide diagnostic clues for CEL-MODY, and genetic testing is vital for proper diagnosis. Further research in larger cohorts is needed to investigate the characteristics and prevalence of CEL-MODY in the Chinese population.

Keyphrases

early onset
type diabetes
late onset
genome wide
copy number
cardiovascular disease
case report
insulin resistance
skeletal muscle