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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
  • View Affiliations / Copyright

    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
    Copyright: © Li et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 4364-4376
    |
    Published online on: April 1, 2019
       https://doi.org/10.3892/mmr.2019.10110
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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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Copy and paste a formatted citation
Spandidos Publications style
Li S, Yang Y, Huang L, Kong M and Yang Z: A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature. Mol Med Rep 19: 4364-4376, 2019.
APA
Li, S., Yang, Y., Huang, L., Kong, M., & Yang, Z. (2019). A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature. Molecular Medicine Reports, 19, 4364-4376. https://doi.org/10.3892/mmr.2019.10110
MLA
Li, S., Yang, Y., Huang, L., Kong, M., Yang, Z."A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature". Molecular Medicine Reports 19.5 (2019): 4364-4376.
Chicago
Li, S., Yang, Y., Huang, L., Kong, M., Yang, Z."A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature". Molecular Medicine Reports 19, no. 5 (2019): 4364-4376. https://doi.org/10.3892/mmr.2019.10110
Copy and paste a formatted citation
x
Spandidos Publications style
Li S, Yang Y, Huang L, Kong M and Yang Z: A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature. Mol Med Rep 19: 4364-4376, 2019.
APA
Li, S., Yang, Y., Huang, L., Kong, M., & Yang, Z. (2019). A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature. Molecular Medicine Reports, 19, 4364-4376. https://doi.org/10.3892/mmr.2019.10110
MLA
Li, S., Yang, Y., Huang, L., Kong, M., Yang, Z."A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature". Molecular Medicine Reports 19.5 (2019): 4364-4376.
Chicago
Li, S., Yang, Y., Huang, L., Kong, M., Yang, Z."A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature". Molecular Medicine Reports 19, no. 5 (2019): 4364-4376. https://doi.org/10.3892/mmr.2019.10110
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