Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria

Hum Genet. 2004 Feb;114(3):314-6. doi: 10.1007/s00439-003-1054-x. Epub 2003 Nov 12.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 16
  • Genes, Recessive*
  • Glycosuria, Renal / genetics*
  • Heterozygote*
  • Humans
  • Male
  • Monosaccharide Transport Proteins / genetics*
  • Mutation*
  • Sodium-Glucose Transporter 2


  • Monosaccharide Transport Proteins
  • SLC5A2 protein, human
  • Sodium-Glucose Transporter 2