Missense mutations in the pancreatic beta-cell ATP-sensitive potassium channel Kir6.2: A case study of Pakistani patient of neonatal diabetes

This case study describes clinical and molecular genetic data of a 45 days old male patient of neonatal diabetes mellitus. pcr amplification followed by dna sequencing revealed two point mutations at positions 67a>g and 1009g>a in kcnj11 gene encoding kir6.2 protein, a component of the beta-cell atp-sensitive potassium (katp) channel which is a key component involved in insulin secretion.