ArticleFrontiers in endocrinology2024
Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene.
Article in Frontiers in endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- The Complex Gene-Carbohydrate Interaction in Type 2 Diabetes: Between Current Knowledge and Future Perspectives.Nutrients · 2025Review
- Ryanodine Receptors in Islet Cell Function: Calcium Signaling, Hormone Secretion, and Diabetes.Cells · 2025Review
- Genetics, manifestations, and management of catecholaminergic polymorphic ventricular tachycardia.Current opinion in cardiology · 2025Review
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4 authors.
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Abstract
Genome-wide association studies have identified several hundred loci associated with type 2 diabetes mellitus (T2DM). Additionally, pathogenic variants in several genes are known to cause monogenic diabetes that overlaps clinically with T2DM. Whole-exome sequencing of related individuals with T2DM is a powerful approach to identify novel high-penetrance disease variants in coding regions of the genome. We performed whole-exome sequencing on four related individuals with T2DM - including one individual diagnosed at the age of 33 years. The individuals were negative for mutations in monogenic diabetes genes, had a strong family history of T2DM, and presented with several characteristics of metabolic syndrome. A missense variant (p.N2291D) in the type 2 ryanodine receptor (
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