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; Dan Arne Klærke

doi:10.1097/01.ASN.0000092790.89332.D2

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, Dan Arne Klærke

246 Citations (Scopus)

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 m(2)/d (81 - 1120 mmol/1.73 m(2)/d). Some, but not all, of their heterozygous family members had an increased glucose excretion of up to 4.4 g/1.73 m(2)/d (24 mmol/1.73 m(2)/d). Likewise, in index cases with glucosuria below 10 g/1.73 m(2)/d (55 mmol/1.73 m(2)/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.

Original language	English
Journal	Journal of the American Society of Nephrology
Volume	14
Issue number	11
Pages (from-to)	2873-2882
Number of pages	10
ISSN	1046-6673
DOIs	https://doi.org/10.1097/01.ASN.0000092790.89332.D2
Publication status	Published - 2003

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Santer, R., Kinner, M., Lassen, C. L., Schneppenheim, R., Eggert, P., Bald, M., Brodehl, J., Daschner, M., Ehrich, J. H. H., Kemper, M., Volti, S. L., Neuhaus, T., Skovby, F., Swift, P. G. F., Schaub, J., & Klærke, D. A. (2003). Molecular analysis of the SGLT2 gene in patients with renal glucosuria. Journal of the American Society of Nephrology, 14(11), 2873-2882. https://doi.org/10.1097/01.ASN.0000092790.89332.D2

Santer, R, Kinner, M, Lassen, CL, Schneppenheim, R, Eggert, P, Bald, M, Brodehl, J, Daschner, M, Ehrich, JHH, Kemper, M, Volti, SL, Neuhaus, T, Skovby, F, Swift, PGF, Schaub, J & Klærke, DA 2003, 'Molecular analysis of the SGLT2 gene in patients with renal glucosuria', Journal of the American Society of Nephrology, vol. 14, no. 11, pp. 2873-2882. https://doi.org/10.1097/01.ASN.0000092790.89332.D2

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title = "Molecular analysis of the SGLT2 gene in patients with renal glucosuria",

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 m(2)/d (81 - 1120 mmol/1.73 m(2)/d). Some, but not all, of their heterozygous family members had an increased glucose excretion of up to 4.4 g/1.73 m(2)/d (24 mmol/1.73 m(2)/d). Likewise, in index cases with glucosuria below 10 g/1.73 m(2)/d (55 mmol/1.73 m(2)/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.",

author = "Ren{\'e} Santer and Martina Kinner and Lassen, {Christoph L.} and Reinhard Schneppenheim and Paul Eggert and Martin Bald and Johannes Brodehl and Markus Daschner and Ehrich, {Jochen H.H.} and Markus Kemper and Volti, {Salvatore Li} and Thomas Neuhaus and Flemming Skovby and Swift, {Peter G.F.} and J{\"u}rgen Schaub and Kl{\ae}rke, {Dan Arne}",

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T1 - Molecular analysis of the SGLT2 gene in patients with renal glucosuria

AU - Santer, René

AU - Kinner, Martina

AU - Lassen, Christoph L.

AU - Schneppenheim, Reinhard

AU - Eggert, Paul

AU - Bald, Martin

AU - Brodehl, Johannes

AU - Daschner, Markus

AU - Ehrich, Jochen H.H.

AU - Kemper, Markus

AU - Volti, Salvatore Li

AU - Neuhaus, Thomas

AU - Skovby, Flemming

AU - Swift, Peter G.F.

AU - Schaub, Jürgen

AU - Klærke, Dan Arne

PY - 2003

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N2 - 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 m(2)/d (81 - 1120 mmol/1.73 m(2)/d). Some, but not all, of their heterozygous family members had an increased glucose excretion of up to 4.4 g/1.73 m(2)/d (24 mmol/1.73 m(2)/d). Likewise, in index cases with glucosuria below 10 g/1.73 m(2)/d (55 mmol/1.73 m(2)/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.

AB - 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 m(2)/d (81 - 1120 mmol/1.73 m(2)/d). Some, but not all, of their heterozygous family members had an increased glucose excretion of up to 4.4 g/1.73 m(2)/d (24 mmol/1.73 m(2)/d). Likewise, in index cases with glucosuria below 10 g/1.73 m(2)/d (55 mmol/1.73 m(2)/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.

U2 - 10.1097/01.ASN.0000092790.89332.D2

DO - 10.1097/01.ASN.0000092790.89332.D2

M3 - Journal article

SN - 1046-6673

VL - 14

SP - 2873

EP - 2882

JO - Journal of the American Society of Nephrology : JASN

JF - Journal of the American Society of Nephrology : JASN

IS - 11

ER -

Molecular analysis of the SGLT2 gene in patients with renal glucosuria

Abstract

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