Alpha 2.0
Login Register
» Articles » PMID: 14614622

Novel Compound Heterozygous Mutations in SLC5A2 Are Responsible for Autosomal Recessive Renal Glucosuria

Overview
Journal Hum Genet
Specialty Genetics
Date 2003 Nov 14
PMID 14614622
Citations 19
Authors
Joaquim Calado
Karina Soto
Carla Clemente
Pedro Correia
Jose Rueff
Affiliations
Soon will be listed here.
Abstract

Familial renal glucosuria is an inherited renal tubular disorder. A homozygous nonsense mutation in the SLC5A2 gene, encoding the sodium/glucose co-transporter SGLT2, has recently been identified in an affected child of consanguineous parents. We now report novel compound heterozygous mutations in the son of non-consanguineous parents. One allele has a p.Q167fsX186 mutation, which is expected to produce a truncated protein, and the other a p.N654S mutation involving a highly conserved residue. These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.

Citing Articles

Role of SLC5A2 polymorphisms and effects of genetic polymorphism on sodium glucose cotransporter 2 inhibitorsinhibitor response.

Xu B, Li S, Kang B, Fan S, Chen C, Li W Mol Biol Rep. 2023; 50(11):9637-9647.

PMID: 37819499 DOI: 10.1007/s11033-023-08836-0.

On the Verge of Precision Medicine in Diabetes.

Li J, Florez J Drugs. 2022; 82(13):1389-1401.

PMID: 36123514 PMC: 9531144. DOI: 10.1007/s40265-022-01774-4.

Treatment Response to SGLT2 Inhibitors: From Clinical Characteristics to Genetic Variations.

Klen J, Dolzan V Int J Mol Sci. 2021; 22(18).

PMID: 34575958 PMC: 8466905. DOI: 10.3390/ijms22189800.

Inherited Renal Tubulopathies-Challenges and Controversies.

Iancu D, Ashton E Genes (Basel). 2020; 11(3).

PMID: 32150856 PMC: 7140864. DOI: 10.3390/genes11030277.

SLC5A2 mutations, including two novel mutations, responsible for renal glucosuria in Chinese families.

Yu L, Wu M, Hou P, Zhang H BMC Nephrol. 2020; 21(1):69.

PMID: 32111189 PMC: 7047355. DOI: 10.1186/s12882-020-01725-9.

References
1.
Kasahara M, Maeda M, Hayashi S, Mori Y, Abe T . A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein. Biochim Biophys Acta. 2001; 1536(2-3):141-7. DOI: 10.1016/s0925-4439(01)00043-6. View
2.
Turk E, Wright E . Membrane topology motifs in the SGLT cotransporter family. J Membr Biol. 1997; 159(1):1-20. DOI: 10.1007/s002329900264. View
3.
Kanai Y, Lee W, You G, Brown D, Hediger M . The human kidney low affinity Na+/glucose cotransporter SGLT2. Delineation of the major renal reabsorptive mechanism for D-glucose. J Clin Invest. 1994; 93(1):397-404. PMC: 293794. DOI: 10.1172/JCI116972. View
4.
Pajor A, Wright E . Cloning and functional expression of a mammalian Na+/nucleoside cotransporter. A member of the SGLT family. J Biol Chem. 1992; 267(6):3557-60. View
5.
den Dunnen J, Antonarakis S . Nomenclature for the description of human sequence variations. Hum Genet. 2001; 109(1):121-4. DOI: 10.1007/s004390100505. View