Neonatal diabetes caused by disrupted pancreatic and β-cell development
De Franco, E
Date: 19 October 2021
Article
Journal
Diabetic Medicine
Publisher
Wiley/Diabetes UK
Publisher DOI
Abstract
Neonatal diabetes is diagnosed before the age of 6 months and is usually caused by single-gene
mutations. Over 30 genetic causes of neonatal diabetes have been described to date, resulting in
severely reduced beta cell number or function. Seven of these genes are known to cause neonatal
diabetes through disrupted development of the ...
Neonatal diabetes is diagnosed before the age of 6 months and is usually caused by single-gene
mutations. Over 30 genetic causes of neonatal diabetes have been described to date, resulting in
severely reduced beta cell number or function. Seven of these genes are known to cause neonatal
diabetes through disrupted development of the whole pancreas, resulting in diabetes and exocrine
pancreatic insufficiency. Pathogenic variants in 5 transcription factors essential for beta cell
development cause neonatal diabetes without other pancreatic phenotypes. However, additional
extra-pancreatic features are common.
This review will focus on the genes causing neonatal diabetes through disrupted beta cell development,
discussing what is currently known about the genetic and phenotypic features of these genetic
conditions, and what discoveries may come in the future.
Institute of Biomedical & Clinical Science
Collections of Former Colleges
Item views 0
Full item downloads 0