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Insulin (INS) gene mutations that cause permanent neonatal diabetes mellitus change single protein building blocks (amino acids) in the protein sequence. These mutations are believed to disrupt the cleavage of the proinsulin chain or the binding of the A and B chains to form insulin, leading to impaired blood sugar control. At least 10 mutations in the INS gene have been identified in people with permanent neonatal diabetes mellitus.

Phenotype, genotype of neonatal diabetes mellitus due to insulin gene mutation