A homozygous <scp><i>TARS2</i></scp> variant is a novel cause of syndromic neonatal diabetes
Our findings establish the homozygous p.(Arg327Gln) TARS2 variant as a novel cause of syndromic neonatal diabetes and uncover a role for TARS2 in pancreatic β-cells.
Authors
- Sarah Elizabeth Flanagan (ORCID: https://orcid.org/0000-0002-8670-6340)
- Teoman Akçay (ORCID: https://orcid.org/0000-0002-8252-7089)
- Matthew N. Wakeling (ORCID: https://orcid.org/0000-0002-6542-9241)
- Mahsa M. Amoli (ORCID: https://orcid.org/0000-0002-9168-9223)
- 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)
- Elisa De Franco (ORCID: https://orcid.org/0000-0002-1437-7891)
- Melek Yıldız (ORCID: https://orcid.org/0000-0002-6603-2983)
- Kashyap Patel (ORCID: https://orcid.org/0000-0002-9240-8104)
- James Yong
- Michael N. Weedon
- Russell Donis
- Irani Aspi
Institutions
- University of Exeter (GB)
- St James's University Hospital (GB)
- Dr. Balabhai Nanavati Hospital (IN)
- Bakırköy Dr.Sadi Konuk Eğitim ve Araştırma Hastanesi (TR)
- Diabetes Foundation (IN)
- University of Lincoln (GB)
- Istanbul University (TR)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Diabetic Medicine
- Published
- 2024-11-07
- DOI
- https://doi.org/10.1111/dme.15471
- Citations
- 5
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 2.86
Funders
- Wellcome Trust
- National Institute for Health and Care Research
- Diabetes UK