Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing
Authors' conclusion
Children with diabetes and at least one non-autoimmune extra-pancreatic feature should be considered for monogenic diabetes testing. Measurement of islet-autoantibodies and T1DGRS help prioritize genetic testing.
Study context
- Population
- Children with diabetes and at least one non-autoimmune extra-pancreatic feature (syndromic diabetes); 50% with self-reported consanguinity
- Participants
- 183 children
- Exposure
- Monogenic vs non-monogenic diabetes
- Monogenicn = 61
- Outcome
- Confirmed monogenic diabetes
Methodological detailstargeted next-generation sequencing
- Targeted next-generation sequencing
Main finding
As reported in the abstract
Confirmed monogenic diabetes
33%
61/183
Recessive etiologies among monogenic
84%
51/61
Most common variants: WFS1 / SLC19A2 / SLC29A3
46% / 12% / 12%
Observational data: associations, not effects.
Further findings
Parental consanguinity · higher with Monogenic
P = 0.01
Features in multiple organ systems · higher with Monogenic
P = 0.01
| Outcome | Monogenic | Non-monogenic | P value |
|---|---|---|---|
| Age of diagnosisSimilar | 7.4 | 6 | P = 0.1 |
| BMI z-scoreSimilar | −0.08 | −0.41 | P = 0.3 |
Reported well-recognized features of associated genetic syndrome (monogenic)
- Reported well-recognized syndrome features
- 59%
Monogenic cause by T1DGRS and antibody status
- Low T1DGRS (<50th centile) and negative/untested antibodies vs positive antibodies vs negative/untested antibodies and high T1DGRS (≥ 50th centile)
- 48% vs 3% vs 7%, P < .0001
Original publication
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