Original Investigation

Human Genetics

, Volume 111, Issue 6, pp 544-547

First online:

Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)

  •  L. van den HeuvelAffiliated withDepartment of Pediatrics, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
  • ,  K. AssinkAffiliated withDepartment of Pediatrics, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
  • ,  M. WillemsenAffiliated withDepartment of Child Neurology, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
  • ,  L. MonnensAffiliated withDepartment of Pediatrics, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

Abstract.

Patients with primary renal glucosuria have normal blood glucose levels, normal oral glucose tolerance test results, and isolated persistant glucosuria. Congenital renal glucosuria is postulated to be attributable to defects in the SGLT2 gene. The Na+/glucose cotransporter gene SGLT2 (=SLC5A2) was analyzed in a Turkish patient with congenital isolated renal glucosuria. Genomic DNA was used as a template for amplification by the polymerase chain reaction of each of the 14 exons of the SGLT2 gene. The amplification products were sequenced. DNA sequence analysis revealed a homozygous nonsense mutation in exon 11 of the SGLT2 gene leading to the formation of a truncated cotransporter. Both parents and a younger brother, all three without renal glucosuria, are heterozygous for the nonsense mutation. Our data provide the first direct evidence of an etiologic role for the sodium/glucose cotransporter type 2 in the pathogenesis of renal glucosuria.