ArticleDiabetic medicine : a journal of the British Diabetic Association2025
A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.
Article in Diabetic medicine : a journal of the British Diabetic Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.Clinical genetics · 2025Pooled it
- Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetes.EBioMedicine · 2026Article
- Global perspectives on monogenic forms of diabetes.Diabetologia · 2025Review
- Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.Diabetic medicine : a journal of the British Diabetic Association · 2025Article
- Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop-gain variant.Journal of diabetes investigation · 2025Article
- A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.Diabetic medicine : a journal of the British Diabetic Association · 2025Article
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Authors and funding
14 authors.
Funding
Abstract
aimsNeonatal diabetes is a monogenic condition which can be the presenting feature of complex syndromes. The aim of this study was to identify novel genetic causes of neonatal diabetes with neurological features including developmental delay and epilepsy.
methodsWe performed genome sequencing in 27 individuals with neonatal diabetes plus epilepsy and/or developmental delay of unknown genetic cause. Replication studies were performed in 123 individuals with diabetes diagnosed aged ≤1 year without a known genetic cause using targeted next-generation sequencing.
resultsThree individuals, all diagnosed with diabetes in the first week of life, shared a rare homozygous missense variant, p.(Arg327Gln), in TARS2. Replication studies identified the same homozygous variant in a fourth individual diagnosed with diabetes at 1 year. One proband had epilepsy, one had development delay and two had both. Biallelic TARS2 variants cause a mitochondrial encephalopathy (COXPD-21) characterised by severe hypotonia, epilepsy and developmental delay. Diabetes is not a known feature of COXPD-21. Current evidence suggests that the p.(Arg327Gln) variant disrupts TARS2's regulation of the mTORC1 pathway which is essential for β-cells.
conclusionsOur 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.
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