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

Abstract

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.