Neonatal diabetes mellitus is a significant feature of <scp>COXPD</scp>‐24 caused by recessive <scp><i>NARS2</i></scp> variants
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.
Authors
- Semra Çeti̇nkaya (ORCID: https://orcid.org/0000-0003-3974-2872)
- Samar S. Hassan (ORCID: https://orcid.org/0000-0002-9741-3383)
- Sarah Elizabeth Flanagan (ORCID: https://orcid.org/0000-0002-8670-6340)
- Nima Parvaneh (ORCID: https://orcid.org/0000-0002-3397-9716)
- Khadiga Eltonbary (ORCID: https://orcid.org/0000-0002-6519-0840)
- Matthew N. Wakeling (ORCID: https://orcid.org/0000-0002-6542-9241)
- Mahsa M. Amoli (ORCID: https://orcid.org/0000-0002-9168-9223)
- Farzaneh Abbasi (ORCID: https://orcid.org/0000-0002-9453-8690)
- Nicola Jeffery (ORCID: https://orcid.org/0000-0002-4101-2345)
- Matthew B. Johnson (ORCID: https://orcid.org/0000-0002-6519-6687)
- Andrew Tym Hattersley (ORCID: https://orcid.org/0000-0001-5620-473X)
- Hanieh Yaghootkar (ORCID: https://orcid.org/0000-0001-9672-9477)
- Selin Elmaoğulları (ORCID: https://orcid.org/0000-0003-4879-7859)
- Meltem Tayfun (ORCID: https://orcid.org/0000-0002-1191-8314)
- Elisa De Franco (ORCID: https://orcid.org/0000-0002-1437-7891)
- Mohammed A. Abdullah
- Russell Donis
- Kubra Gunes
- Molly Govier
Institutions
- Ain Shams University (EG)
- Ministry of Health (TR)
- Ankara University (TR)
- University of Khartoum (SD)
- University of Health Science (KH)
- University of Exeter (GB)
- State Hospital (GB)
- Sudan Childhood Diabetes Association (SD)
- Children's Medical Center (IR)
- Dr Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi (TR)
- Tokatsu Hospital (JP)
- Soliman Fakeeh Hospital (SA)
- Sağlık Bilimleri Üniversitesi (TR)
- NIHR Exeter Clinical Research Facility (GB)
- Ibn Sina Hospital (KW)
- University of Lincoln (GB)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Diabetic Medicine
- Published
- 2025-08-31
- DOI
- https://doi.org/10.1111/dme.70129
- Citations
- 2
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 4.01
Funders
- Wellcome Trust
- Diabetes UK
- European Foundation for the Study of Diabetes
- Novo Nordisk
- Novo Nordisk Fonden