Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria
- 12 November 2003
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 114 (3) , 314-316
Abstract
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.Keywords
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