Updated prevalence of monogenic diabetes in Australia: Fremantle Diabetes Study Phase 2

Timothy ME Davis, Ashley E Makepeace, Kirsten Peters, Kevin Colclough and Wendy A Davis
Med J Aust 2019; 211 (4): . || doi: 10.5694/mja2.50290
Published online: 19 August 2019

To the Editor: Based on Fremantle Diabetes Study Phase 2 (FDS2) data, we reported in this Journal that the prevalence of maturity‐onset diabetes of the young (MODY) and permanent neonatal diabetes in an urban Australian population was 0.24% and 0.12%, respectively, of people diagnosed with diabetes.1 A further FDS2 participant among those identified as probably having MODY by clinical risk prediction was the only one with a novel heterozygous missense variant (Ala161Thr) in the KCNJ11 gene which encodes the pore‐forming KIR6.2 subunit of the pancreatic β‐cell adenosine triphosphate‐dependent potassium channel.2 This variant was not considered to be a cause of MODY at the time of our publication in 2017,1 but evidence has since emerged that it is a pathogenic activating mutation. It has been identified in two other patients with neonatal diabetes diagnosed before 9 months of age who were responsive to sulfonylurea therapy, and in another diagnosed at 14 years of age who was glutamic acid decarboxylase and islet antigen 2 antibody negative, and had a low (5th percentile) type 1 genetic risk score,3 a body mass index of 21, a stimulated serum C‐peptide concentration of 289 pmol/L (fasting range, 260–1030 pmol/L) 11 years after diagnosis, and a family history of non‐insulin‐requiring diabetes in her brother and mother (both diagnosed at 18 years of age) and maternal uncle and grandfather (unpublished data, Molecular Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).

  • 1 University of Western Australia, Perth, WA
  • 2 Fiona Stanley Hospital, Perth, WA
  • 3 Molecular Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK



FDS2 has been supported by National Health and Medical Research Council (NHMRC) project grants 513781 and 1042231. Timothy Davis is supported by an NHMRC Practitioner Fellowship (1058260). The funders had no role in the design and conduct of the study, or in the preparation of the manuscript and the decision to submit for publication.

Competing interests:

No relevant disclosures.

  • 1. Davis TME, Makepeace AE, Ellard S, et al. The prevalence of monogenic diabetes in Australia: the Fremantle Diabetes Study Phase II. Med J Aust 2017; 207: 344–347.
  • 2. Letourneau LR, Greeley SAW. Congenital forms of diabetes: the beta‐cell and beyond. Curr Opin Genet Dev 2018; 50: 25–34.
  • 3. Oram RA, Patel K, Hill A, et al. A type 1 diabetes genetic risk score can aid discrimination between type 1 and type 2 diabetes in young adults. Diabetes Care 2016; 39: 337–344.
  • 4. Bowman P, Sulen A, Barbetti F, et al. Effectiveness and safety of long‐term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol 2018; 6: 637–646.
  • 5. Flanagan SE, Patch AM, Mackay DJ, et al. Mutations in ATP‐sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007; 56: 1930–1937.


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