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

Calado, J; Soto, K; Clemente, C; Correia, P; Rueff, J

http://hdl.handle.net/10400.10/684

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Hum Genet. 2004 Feb, 114(3) 314-6..pdf		170.52 KB	Adobe PDF	Download

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Abstract(s)

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.