The landscape of monogenic diabetes in Italy. Comparisons with other European countries
Authors' conclusion
Monogenic diabetes in Italy only partially resembles that in other countries.
Study context
- Population
- White unrelated patients with suspected monogenic diabetes across wide age-range at diagnosis, Italy, 2017–2025
- Participants
- 521 unrelated patients
- Outcome
- Pathogenic/likely-pathogenic variants (diagnostic yield)
Methodological detailsNGS and Sanger sequencing, variants classified per gene-specific expert-panel or ClinGen/ACMG guidelines
- NGS and Sanger sequencing
- Variants classified per gene-specific expert-panel or ClinGen/ACMG guidelines
Main finding
As reported in the abstract
Pathogenic/likely-pathogenic variants
Patients with pathogenic/likely-pathogenic variants
127 of 521
24.4 %
Yield inversely related to age at diagnosis; at > 50 years
3 %
Observational data: associations, not effects.
Further findings
Distribution of monogenic diabetes subtypes
%
- GCK-diabetes most common (in contrast to UK, France and Norway)
- 54
- HNFAs-diabetes
- 19
- Syndromic diabetes genes (similar to UK and France)
- 22.8
MODY probability calculator
- Much worse discrimination than in the UK where it was developed
Original publication
The landscape of monogenic diabetes in Italy. Comparisons with other European countries. Diabetes Res Clin Pract. Published 14 August 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →