title: Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.
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.
authors: Department of Genetics, Faculty of Medical Sciences, New University of Lisbon, Rua da Junqueira 96, 1349-008 Lisbon, Portugal. jcalado.gene@fcm.unl.pt
authors: Joaquim
authors: J
authors: Calado
authors: Karina
authors: K
authors: Soto
authors: Carla
authors: C
authors: Clemente
authors: Pedro
authors: P
authors: Correia
authors: José
authors: J
authors: Rueff
mesh_terms: D000328:Adult; D002885:Chromosomes, Human, Pair 16; D005808:Genes, Recessive; D006030:Glycosuria, Renal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation; D051297:Sodium-Glucose Transporter 2
chemical_list: D009004:Monosaccharide Transport Proteins; C089180:SLC5A2 protein, human; D051297:Sodium-Glucose Transporter 2