hrp0095p1-257 | Diabetes and Insulin | ESPE2022

A novel mutation in INS gene in an infant with neonatal diabetes mellitus: A case report and functional study

Suh Junghwan , Jin Kim Su , In Lee Hae , Lee Myeongseob , Song Kyungchul , Saem Choi Han , Kwon Ahreum , Wook Chae Hyun , Kim Ho-Seong

Neonatal diabetes mellitus (NDM) is a hyperglycemic status usually diagnosed before first 6 months of life, which is caused by monogenic mutations. INS gene mutation is the second most common cause of permanent NDM, causing misfolding of proinsulin and accumulation in the endoplasmic reticulum, leading to apoptosis of the pancreatic beta cells. We report a case of NDM in a 2-month-old girl with a novel heterozygous mutation of the INS gene, and functional studies to confirm th...