Connect
MJA
MJA

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diabetes in her brother and mother (both diagnosed at 18 years of age) and maternal uncle and grandfather (unpublished data, Molecular Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).

  • Timothy ME Davis1
  • Ashley E Makepeace2
  • Kirsten Peters1
  • Kevin Colclough3
  • Wendy A Davis1

  • 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

Correspondence: tim.davis@uwa.edu.au

Acknowledgements: 

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.

Author

remove_circle_outline Delete Author
add_circle_outline Add Author

Comment
Do you have any competing interests to declare? *

I/we agree to assign copyright to the Medical Journal of Australia and agree to the Conditions of publication *
I/we agree to the Terms of use of the Medical Journal of Australia *
Email me when people comment on this article

You do not have permission to add a response to this article.