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

Calado, JSoto, KClemente, CCorreia, PRueff, J2012-08-302012-08-302004Hum Genet. 2004 Feb;114(3):314-60340-6717http://hdl.handle.net/10400.10/684Familial 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.engGlicosúria renalRenal glycosuriaHeterozygoteNovel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.journal article