Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1

The basic helix‐loop‐helix(bHLH) transcription factor, NEUROD1(also known as BETA2) is involved in the development of neural elements and endocrine pancreas. Less than 10 reports of adult‐onset non‐insulin dependent diabetes mellitus(NIDDM) due to heterozygous NEUROD1 mutations and two cases with permanent neonatal diabetes mellitus(PNDM) and neurological abnormalities due to homozygous NEUROD1 mutations have been published.

Source: Pediatric Diabetes - March 1, 2018 Category: Endocrinology Authors: Huseyin Demirbilek, Nihal Hatipoglu, Ulku Gul, Zeynep Uzan Tatli, Sian Ellard, Sarah E. Flanagan, Elisa De Franco, Selim Kurtoglu Tags: CASE REPORT Source Type: research