Journal
DIABETES
Volume 68, Issue 7, Pages 1528-1535Publisher
AMER DIABETES ASSOC
DOI: 10.2337/db19-0045
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Funding
- Wellcome Trust Senior Investigator Award [098395/Z/12/Z]
- National Institute of Diabetes and Digestive and Kidney Diseases, Foundation for the National Institutes of Health [K23 DK094866, R01 DK104942, P30 DK020595]
- Clinical and Translational Science Awards Program [UL1 TR000430]
- American Diabetes Association [1-17-JDF-008]
- Sir Henry Dale Fellowship - Wellcome Trust [105636/Z/14/Z]
- Wellcome Trust [110082/Z/15/Z]
- Helmsley Foundation's Breakthrough Initiative
- Diabetes Research & Wellness Foundation
- NIHR Exeter Clinical Research Facility
- University of Exeter
- Sir Henry Dale Fellowship - Royal Society [105636/Z/14/Z]
- Wellcome Trust [098395/Z/12/Z] Funding Source: Wellcome Trust
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Identifying new causes of permanent neonatal diabetes (PNDM) (diagnosis <6 months) provides important insights into beta-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are four times more likely to have childhood diabetes with an intermediate HLA association. It is not known whether DS can cause PNDM. We found that trisomy 21 was seven times more likely in our PNDM cohort than in the population (13 of 1,522 = 85 of 10,000 observed vs. 12.6 of 10,000 expected) and none of the 13 DS-PNDM patients had a mutation in the known PNDM genes that explained 82.9% of non-DS PNDM. Islet autoantibodies were present in 4 of 9 DS-PNDM patients, but DS-PNDM was not associated with polygenic susceptibility to type 1 diabetes (T1D). We conclude that trisomy 21 is a cause of autoimmune PNDM that is not HLA associated. We propose that autoimmune diabetes in DS is heterogeneous and includes coincidental T1D that is HLA associated and diabetes caused by trisomy 21 that is not HLA associated.
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