Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes
Authors' conclusion
Based on this robust classification, we estimate that the prevalence of HNF1A-MODY is 0.3% in paediatric diabetes. Clinical phenotyping is challenging and functional investigations provide a strong complementary line of evidence. We demonstrate here that combining clinical phenotyping with functional protein studies provides a powerful tool to obtain a precise diagnosis of HNF1A-MODY.
Study context
- Population
- Autoantibody-negative cases of paediatric diabetes in the Norwegian Childhood Diabetes Registryof 4712 paediatric cases
- Participants
- 615 cases
- Primary endpoint
- Pathogenicity of HNF1A variants of uncertain significance and prevalence of HNF1A-MODY in paediatric diabetes
Methodological detailsregistry-based, next-generation sequencing, investigator-initiated, open-label
- Registry-based
- Next-generation sequencing
- Investigator-initiated
- Open-label
Primary result
As reported in the abstract
Participants with HNF1A variants
19
Carriers of novel variants (uncertain significance or likely pathogenic)
9
Participants carrying five previously reported pathogenic variants
10
Estimated prevalence of HNF1A-MODY in paediatric diabetes
0.3%
Further findings
Response to SU among carriers of novel variants
- Responded favourably to SU, of 9 carriers of novel variants
- 6
Functional investigations of novel variants
- Variants dysfunctional, correlating with phenotype; evidence for reclassification as pathogenic
Original publication
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