Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq
Authors' conclusion
This unique single-centre study confirms that, even in a highly consanguineous population, clinically defined type 1 diabetes is the prevailing paediatric diabetes subtype. Furthermore, a pathogenic cause of monogenic diabetes was identified in 83% of tested participants with neonatal diabetes and 57% of participants with syndromic diabetes, with most variants being homozygous. Causative genes in our consanguineous participants were markedly different from genes reported from non-consanguineous populations and also from those reported in other consanguineous populations. To correctly diagnose syndromic diabetes in consanguineous populations, it may be necessary to re-evaluate diagnostic criteria and include additional phenotypic features such as short stature and hepatosplenomegaly.
Study context
- Population
- Individuals with diabetes aged up to 16 years registered at the paediatric diabetic clinic, Dr Jamal Ahmad Rashed Hospital, Sulaimani, Kurdistan, Iraq (Nov 2021); 381 boysconsanguinity known in 735
- Participants
- 754 individuals
- Exposure
- T1D vs T2D vs Neonatal diabetes vs Syndromic diabetes vs MODY
- T1Dn = 714
- T2Dn = 8
- Neonatal diabetesn = 14
- Syndromic diabetesn = 7
- MODYn = 11
- Outcome
- Diabetes subtypes and consanguinity
Methodological detailssingle-centre, next-generation sequencing of neonatal and syndromic diabetes families
- Single-centre
- Next-generation sequencing of neonatal and syndromic diabetes families
Main finding
As reported in the abstract
| Group | Value | Consanguineous |
|---|---|---|
| T1D | 94.7% | 35% |
| T2D | 1.1% | 38% |
| Neonatal diabetes | 1.9% | 50% |
| Syndromic diabetes | 0.9% | 100% |
| MODY | 1.5% | 18% |
Value
Consanguineous
- Offspring of consanguineous families (of 735 with known status)
- 269 (36.5%)
- Consanguinity significantly associated with syndromic diabetes
- P = 0.0023
Observational data: associations, not effects.
Further findings
Genetic cause identified by genetic testing
- Neonatal diabetes: genetic cause elucidated (homozygous GLIS3 [sibling pair], PTF1A, ZNF808; heterozygous ABCC8, INS)
- 10 of 12
- Syndromic diabetes: genetic cause elucidated (homozygous INSR, SLC29A3, WFS1 [sibling pair])
- 4 of 7
- Participant referred as syndromic diabetes diagnosed with mucolipidosis gamma, probably T2D
- 1
Original publication
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