Abstract
•The newly identified single nucleotide polymorphism in this study in insulin gene may abolish the polyadenylation signal results in severe RNA instability.•This single nucleotide polymorphism described in this study may contribute to reduced insulin biosynthesis.
Neonatal diabetes mellitus (NDM) is a rare condition with a prevalence of 1 in 300,000 live births. We have found 3 known SNPs in 5′UTR and a novel SNP in 3′ UTR in the INS gene. These SNPs were present in 9-month-old girl from Saudi Arabia and also present in the father and mother. The novel SNP we found is not present in 1000 Genome project or other databases. Further, the newly identified 3′ UTR mutation in the INS gene may abolish the polyadenylation signal and result in severe RNA instability.