Human Genetics

, Volume 114, Issue 3, pp 314–316 | Cite as

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

  • Joaquim Calado
  • Karina Soto
  • Carla Clemente
  • Pedro Correia
  • José Rueff
Short Report

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.

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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Joaquim Calado
    • 1
    • 2
  • Karina Soto
    • 2
  • Carla Clemente
    • 3
  • Pedro Correia
    • 2
  • José Rueff
    • 1
  1. 1.Department of Genetics, Faculty of Medical SciencesNew University of LisbonLisbonPortugal
  2. 2.Department of NephrologyHospital Fernando da FonsecaLisbonPortugal
  3. 3.STAB GENÓMICALisbonPortugal

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