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

Can Thi Bich Ngoc,Maria Craig,Nguyen Phu Dat,Nguyen Thi Hoan,Sian Ellard,Vu Chi Dung,Bui Phuong Thao,Nguyen Ngoc Khanh

doi:10.1186/1687-9856-2015-s1-p12

Abstract

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.

Highlights

Insulin (INS) gene mutations that cause permanent neonatal diabetes mellitus change single protein building blocks 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
Vietnam National Hospital of Paediatrics, Hanoi, Vietnam. 2Hanoi Medical University, Hanoi, Vietnam. 3The Children Hospital at Westmead, Sydney, NSW, Australia. 4Molecular Genetics, Old Path Lab, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK

Summary

Introduction

Insulin (INS) gene mutations that cause permanent neonatal diabetes mellitus change single protein building blocks (amino acids) in the protein sequence.

Results

Conclusion