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Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria

René Santer^*,, Martina Kinner^*,, Christoph L. Lassen^*, Reinhard Schneppenheim, Paul Eggert^*, Martin Bald, Johannes Brodehl^||, Markus Daschner^¶, Jochen H.H. Ehrich^||, Markus Kemper^,#, Salvatore Li Volti^**, Thomas Neuhaus^#, Flemming Skovby, Peter G.F. Swift, Jürgen Schaub^* and Dan Klaerke

*Department of Pediatrics, University of Kiel, Kiel, Germany; Department of Pediatrics, University of Hamburg, Hamburg, Germany; Department of Pediatric Hematology and Oncology, University of Hamburg, Hamburg, Germany; Department of Pediatrics, University of Essen, Essen, Germany; ^||Department of Pediatrics, Medical School Hannover, Hanover, Germany; ^¶Department of Pediatrics, University of Heidelberg, Heidelberg, Germany; ^#Department of Pediatrics, University of Zurich, Zurich, Switzerland; **Department of Pediatrics, University of Catania, Catania, Italy; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark; Department of Pediatrics, University of Leicester, Leicester, United Kingdom; and The Panum Institute, University of Copenhagen, Copenhagen, Denmark

Correspondence to Dr. René Santer, Department of Pediatrics, University Children’s Hospital, Martini Strasse 52, D-20246 Hamburg, Germany. Phone: +49-40-42803-3710; Fax: +49-40-42803-5107;

ABSTRACT. The role of SGLT2 (the gene for a renal sodium-dependent glucose transporter) in renal glucosuria was evaluated. Therefore, its genomic sequence and its intron-exon organization were determined, and 23 families with index cases were analyzed for mutations. In 21 families, 21 different SGLT2 mutations were detected. Most of them were private; only a splice mutation was found in 5 families of different ethnic backgrounds, and a 12-bp deletion was found in two German families. Fourteen individuals (including the original patient with ’renal glucosuria type 0') were homozygous or compound heterozygous for an SGLT2 mutation resulting in glucosuria in the range of 14.6 to 202 g/1.73 m²/d (81 - 1120 mmol/1.73 m²/d). Some, but not all, of their heterozygous family members had an increased glucose excretion of up to 4.4 g/1.73 m²/d (24 mmol/1.73 m²/d). Likewise, in index cases with glucosuria below 10 g/1.73 m²/d (55 mmol/1.73 m²/d) an SGLT2 mutation, if present, was always detected in the heterozygous state. We conclude that SGLT2 plays an important role in renal tubular glucose reabsorption. Inheritance of renal glucosuria shows characteristics of a codominant trait with variable penetrance. E-mail: r.santer@uke.uni-hamburg.de

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