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

  • Genetics (Jose C. Florez, Section Editor)
  • Published:
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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.

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References

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

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Acknowledgments

The authors wish to thank all the wonderful patients and families participating in our Monogenic Diabetes Registry (http://MonogenicDiabetes.org). Research at the University of Chicago Kovler Monogenic Diabetes Center is supported through funding provided by the US National Institutes of Health Clinical and Translational Science Awards UL1RR024999 and Diabetes Research and Training Center P60 DK020595 programs, as well as the American Diabetes Association (1-11-CT-41), the Lewis-Sebring Family Foundation, and the Kovler Family Foundation.

Disclosure

Conflicts of interest: S.A.W. Greeley: is supported by the Lewis-Sebring Family Foundation as the Lewis-Sebring Fellow in Diabetes Genetics, as well as from the Kovler Family Foundation; R.N. Naylor: is supported by a minority fellowship award (7-10-MI-08) from the American Diabetes Association, the Lewis-Sebring Family Foundation, and the Kovler Family Foundation; L.H. Philipson: is supported by the Lewis-Sebring Family Foundation and the Kovler Family Foundation; G.I. Bell: is supported by the Lewis-Sebring Family Foundation and the Kovler Family Foundation; also, the University of Chicago receives royalties from Correlagen Diagnostics for genetic testing for mutations in the diabetes genes GCK, HNF1A, HNF1B and HNF4A, based on patents 5,541,060 and 6,187,533, resulting from prior research by Dr. Bell.

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  1. Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, Kovler Diabetes Center, The University of Chicago, MC 1027/N235, 5841 South Maryland Avenue, Chicago, IL, 60637, USA

    Siri Atma W. Greeley, Rochelle N. Naylor, Louis H. Philipson & Graeme I. Bell

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  1. Siri Atma W. Greeley
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  2. Rochelle N. Naylor
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  3. Louis H. Philipson
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  4. Graeme I. Bell
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Correspondence to Siri Atma W. Greeley.

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Greeley, S.A.W., Naylor, R.N., Philipson, L.H. et al. Neonatal Diabetes: An Expanding List of Genes Allows for Improved Diagnosis and Treatment. Curr Diab Rep 11, 519–532 (2011). https://doi.org/10.1007/s11892-011-0234-7

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  • DOI: https://doi.org/10.1007/s11892-011-0234-7

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