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

Authors: Calado, J  Soto, K  Clemente, C  Correia, P  Rueff, J 
Citation: Calado J, etal., Hum Genet. 2004 Feb;114(3):314-6. Epub 2003 Nov 12.
Pubmed: (View Article at PubMed) PMID:14614622
DOI: Full-text: DOI:10.1007/s00439-003-1054-x

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.

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CRRD Object Information
CRRD ID: 1599049
Created: 2007-01-15
Species: All species
Last Modified: 2007-01-15
Status: ACTIVE



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