Current Diabetes Reports

, 11:519

Neonatal Diabetes: An Expanding List of Genes Allows for Improved Diagnosis and Treatment

  • Siri Atma W. Greeley
  • Rochelle N. Naylor
  • Louis H. Philipson
  • Graeme I. Bell
Genetics (Jose C. Florez, Section Editor)

Abstract

There has been major progress in recent years uncovering the genetic causes of diabetes presenting in the first year of life. Twenty genes have been identified to date. The most common causes accounting for the majority of cases are mutations in the genes encoding the two subunits of the ATP-sensitive potassium channel (KATP), KCNJ11 and ABCC8, and the insulin gene (INS), as well as abnormalities in chromosome 6q24. Patients with activating mutations in KCNJ11 and ABCC8 can be treated with oral sulfonylureas in lieu of insulin injections. This compelling example of personalized genetic medicine leading to improved glucose regulation and quality of life may—with continued research—be repeated for other forms of neonatal diabetes in the future.

Keywords

Neonatal diabetes Monogenic diabetes NDM PNDM TNDM MODY KCNJ11 ABCC8 KATP INS 6q24 EIF2AK3 GCK PDX1 FOXP3 IPEX PTF1A RFX6 NEUROG3 NEUROD1 WFS1 DIDMOAD SLC19A2 TRMA SLC2A2 GLIS3 HNF1B IER3IP1 

References

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Siri Atma W. Greeley
    • 1
  • Rochelle N. Naylor
    • 1
  • Louis H. Philipson
    • 1
  • Graeme I. Bell
    • 1
  1. 1.Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, Kovler Diabetes CenterThe University of ChicagoChicagoUSA

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