Homozygous Mutations in<i>NEUROD1</i>Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities

We describe a novel clinical syndrome that results from homozygous loss of function mutations in NEUROD1. It is characterized by permanent neonatal diabetes and a consistent pattern of neurological abnormalities including cerebellar hypoplasia, learning difficulties, sensorineural deafness, and visual impairment. This syndrome highlights the critical role of NEUROD1 in both the development of the endocrine pancreas and the central nervous system in humans.