Identification and characterization of novel PAX4 variants in patients with suspected MODY9
Authors' conclusion
This study expands the spectrum of PAX4 variants and provides novel mechanistic insights into the pathogenesis of MODY9. Our results highlight the importance of assessing protein-level consequences for variant interpretation and support the integration of functional assays into MODY genetic diagnostic workflows.
Study context
- Population
- 3 unrelated patients with early-onset diabetes and family history of the disease, suspected maturity-onset diabetes of the young (MODY)
- Participants
- 3 unrelated patients
- Outcome
- Novel PAX4 variants and their functional consequences
Methodological detailscase series, whole-exome and Sanger sequencing, in silico predictions, functional studies in MIN6 cells
- Case series
- Whole-exome and Sanger sequencing
- In silico predictions
- Functional studies in MIN6 cells
Main finding
As reported in the abstract
- Three novel PAX4 variants identified: c.83delA; p.Gln28ArgfsTer6, c.35T>C; p.Leu12Pro, c.488G>C; p.Arg163Pro
- 3
Original publication
Identification and characterization of novel PAX4 variants in patients with suspected MODY9. BMJ Open Diabetes Res Care. Published 31 December 2025. doi:10.
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