A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families

摘要

Insulin gene ( ) mutations are a rare cause of permanent neonatal diabetes and mature-onset diabetes of the young (MODY10). Homozygous mutations have been reported to cause diabetes by decreasing insulin biosynthesis through distinct mechanisms. In this study, we report a homozygous mutation c.-331C>G in the gene causing autosomal recessive neonatal diabetes in Saudi families and share our experience with diagnosis and management.