Endocrine Abstracts

Understanding how pancreatic beta-cells develop during human development is essential to advance current protocols aimed at developing insulin-producing beta-cells in vitro and highlight therapeutic targets for diabetes treatment. Identifying the single-gene mutations which result in individuals developing diabetes in the first 6 months of life (a condition called neonatal diabetes) has the potential to give unique insights into the genes regulating human beta-cells w...

Background and aims: Neonatal diabetes diagnosed before 6 months is caused by mutations that reduce. β cell number (reduced formation or increased destruction) or impair β cell function. We investigated the genetic cause of a syndrome characterised by neonatal diabetes, microcephaly and epilepsy.Materials and methods: We performed whole genome sequencing for two unrelated patients with neonatal diabetes, epilepsy and microcephaly. Replication s...