ESPE Abstracts

Background: Approximately 70% of transient neonatal diabetes mellitus (TNDM) are caused by abnormalities in the imprinted locus at chromosome 6q24, and the remaining 30% are caused by heterozygous mutations in the KATP-channel genes, ABCC8 or KCNJ11. Only a few cases of TNDM are reported to be caused by biallelic, recessive mutations in the insulin (INS) gene.Objective and hypotheses: To explore the role of INS gene mutations as a cause of tra...