Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria
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- Calado, J., Soto, K., Clemente, C. et al. Hum Genet (2004) 114: 314. doi:10.1007/s00439-003-1054-x
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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.