ReviewMolecular medicine reports2019
A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature.
Review in Molecular medicine reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Familial renal glycosuria as a genetic model of long-term SGLT2 inhibition: potential implications for calcium phosphate metabolism and bone health.Journal of nephrology · 2025Article
- Renal glucosuria in children.World journal of clinical pediatrics · 2025Review
- A novel heterozygous likely pathogenic SLC5A2 variant in a diabetic patient with glucosuria and aminoaciduria.Endocrinology, diabetes & metabolism case reports · 2024Article
- Role of SLC5A2 polymorphisms and effects of genetic polymorphism on sodium glucose cotransporter 2 inhibitorsinhibitor response.Molecular biology reports · 2023Review
- 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
- Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.Life (Basel, Switzerland) · 2023Article
- Mouse Models with SGLT2 Mutations: Toward Understanding the Role of SGLT2 beyond Glucose Reabsorption.International journal of molecular sciences · 2023Review
- Familial Renal Glucosuria Presenting as Paroxysmal Glucosuria and Hypercalciuria Due to a NovelEuropean journal of case reports in internal medicine · 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
- Pharmacogenetics of new classes of antidiabetic drugs.Bosnian journal of basic medical sciences · 2021Review
- Impact of an SGLT2-loss of function mutation on renal architecture, histology, and glucose homeostasis.Cell and tissue research · 2021Article
- 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
- Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.Journal of applied genetics · 2019Review
- Isolated renal glucosuria due to SLC5A2 gene mutation: a rare presentation.Jornal brasileiro de nefrologiaArticle
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial renal glucosuria (FRG) is a rare condition that involves isolated glucosuria despite normal blood glucose levels. Mutations in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium‑glucose cotransporter 2 (SGLT2), have been reported to be responsible for the disease. Genetic testing of the SLC5A2 gene was conducted in a Chinese family with FRG. A number of online tools were used to predict the potential effect of the identified mutations on SGLT2 function. Additionally, the SLC5A2 mutations previously reported in PubMed were summarized. A novel compound heterozygous mutation (c.514T>C, p.W172R; c.1540C>T, p.P514S) of the SLC5A2 gene in a Chinese child with FRG was identified. In total, 86 mutations of the SLC5A2 gene have been reported to be associated with FRG. The novel compound heterozygous mutation (c.514T>C, p.W172R; c.1540C>T, p.P514S) of the SLC5A2 gene may be responsible for the onset of FRG. The present study provides a starting point for further investigation of the molecular pathogenesis of the SLC5A2 gene mutation in patients with FRG.
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