A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature

Li,Shentang; Yang,Yeyi; Huang,Lihua; Kong,Min; Yang,Zuocheng

doi:10.3892/mmr.2019.10110

A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature

Authors:
- Shentang Li
- Yeyi Yang
- Lihua Huang
- Min Kong
- Zuocheng Yang
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Affiliations: Department of Pediatrics, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China, Department of Medicine, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China, Central Laboratory, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China
Published online on: April 1, 2019 https://doi.org/10.3892/mmr.2019.10110
Pages: 4364-4376
Copyright: © Li et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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