hrp0095p1-441 | Diabetes and Insulin | ESPE2022

NEUROD1 mutation as a cause of neonatal diabetes: the rarest of the rare!

Abdelmeguid Yasmine , Elwan Samar , De Franco Elisa , Abd Elmaksoud Marwa , Khater Doaa

Background: NEUROD1 encoding neurogenic differentiation 1 is known to play an important role in the development of the pancreas and central nervous system. Heterozygous mutations have been rarely identified as a cause of maturity-onset diabetes of the young (MODY6). Biallelic NEUROD1 mutations have been reported to cause neonatal diabetes mellitus (NDM) as well. However, only 3 cases have been reported worldwide so far....