ArticleJournal of diabetes investigation2020
Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium-glucose cotransporter 2 encoded by a solute carrier family 5 member 2 gene.
Article in Journal of diabetes investigation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Hyperinsulinemic hypoglycemia in renal glucosuria in the presence of a novel sodium-glucose cotransporter 2 variant.JCEM case reports · 2026Article
- Screening of SGLT2 inhibitors based on virtual screening and cellular experiments.Scientific reports · 2025Article
- Progress in Understanding the Regulation of Glucose and Fructose Metabolism.Annual review of nutrition · 2025Review
- Renal glucosuria in children.World journal of clinical pediatrics · 2025Review
- A young-onset type 2 diabetic Chinese girl with familial renal glycosuria caused by a novel mutation in SLC5A2: A case report.Journal of diabetes · 2023Article
- A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria.Human genome variation · 2022Article
- Case report: Identification of three novel compound heterozygous SGLT2 variants in three Chinese pediatric patients with familial renal glucosuria.Frontiers in pediatrics · 2022Article
- Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium-glucose cotransporter 2 encoded by a solute carrier family 5 member 2 gene.Journal of diabetes investigation · 2020Article
- Six Exonic Variants in theFrontiers in genetics · 2020Article
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Authors and funding
9 authors at 5 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
We report the identification of a mutation in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium-glucose cotransporter 2, in a family with familial renal glucosuria. The proband was a 26-year-old Japanese man referred to the diabetes division with repeated glucosuria without hyperglycemia. His mother, uncle and grandfather also had a history of glucosuria. A heterozygous missense mutation (c.303T>A:p.N101K) in SLC5A2 was identified in the patient and his mother, but not in 200 chromosomes from 100 healthy and unrelated individuals, or in 3,408 Japanese individuals in the Tohoku Medical Megabank. Furthermore, bioinformatics software predicted that this lesion would be pathogenic. We infer that the mutation led to clinically relevant sodium-glucose cotransporter 2 dysfunction. The patient showed no symptoms of hypoglycemia, but continuous glucose monitoring confirmed asymptomatic hypoglycemia.
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