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September 5, 2025Diabetic MedicineOpen Access

Neonatal diabetes mellitus is a significant feature of COXPD‐24 caused by recessive NARS2 variants

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Authors

RDRussell DonisMWMatthew N. WakelingNJNicola Jeffery

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Overview

Investigation finds NARS2 variants in young diabetes patients, suggesting a link to COXPD24 and neonatal diabetes.

Key Points

  • Neonatal diabetes is prevalent in individuals with COXPD24, highlighting NARS2's crucial role.
  • In a cohort of 397 individuals, 8 cases of homozygous NARS2 variants were identified, diagnosed with diabetes by 6 months.
  • Most probands had low birthweight, with neurological issues, like epilepsy and developmental delay, common in the cohort.
  • Genome sequencing revealed significant findings on the relationship between NARS2 variants and neonatal diabetes.

Cite This Study

Donis et al. (2025) studied this question.

synapsesocial.com/papers/68bb46c96d6d5674bccff239https://doi.org/10.1111/dme.70129
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