Pediatric Diabetes

 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.