Neonatal diabetes mellitus is a significant feature of COXPD ‐24 caused by recessive NARS2 variants
An erratum to this article was published (Diabet Med, Apr 2026 ↗)
Authors' conclusion
Taken together with previously published cases, this study shows that NDM is an important feature of COXPD-24 and highlights a critical role for NARS2 in the insulin-secreting pancreatic β-cell.
Study context
- Population
- Individuals diagnosed with diabetes <24 months of age of unknown genetic cause
- Participants
- 397 individuals
- Outcome
- Homozygous disease-causing missense NARS2 variants
Methodological detailsgenome and targeted next-generation sequencing
- Genome and targeted next-generation sequencing
Main finding
As reported in the abstract
- Individuals with homozygous disease-causing NARS2 missense variants
- 8
- P.(Phe216Leu)
- 4
- P.(Thr180Asn)
- 3
- P.(Val440Leu)
- 1
- Insulin-dependent diabetes diagnosed before 6 months of age (NDM)
- 8/8
- Median age at diagnosis
- 4 weeks (range: 1 to 20 weeks)
Further findings
Low birthweight
- Probands with low birthweight
- 7/8
- Median birthweight Z-score
- −2.43 (range: −4.17 to 0.86)
Neurological features
- Epilepsy
- 7/8
- Developmental delay
- 6/8
Original publication
Neonatal diabetes mellitus is a significant feature of COXPD ‐24 caused by recessive NARS2 variants. Diabet Med. Published 31 August 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →