Molecular analysis of the SGLT2 gene in patients with renal glucosuria
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Molecular analysis of the SGLT2 gene in patients with renal glucosuria. / Santer, René; Kinner, Martina; Lassen, Christoph L.; Schneppenheim, Reinhard; Eggert, Paul; Bald, Martin; Brodehl, Johannes; Daschner, Markus; Ehrich, Jochen H.H.; Kemper, Markus; Volti, Salvatore Li; Neuhaus, Thomas; Skovby, Flemming; Swift, Peter G.F.; Schaub, Jürgen; Klærke, Dan Arne.
In: Journal of the American Society of Nephrology, Vol. 14, No. 11, 2003, p. 2873-2882.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
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
Y1 - 2003
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
VL - 14
SP - 2873
EP - 2882
JO - Journal of the American Society of Nephrology : JASN
JF - Journal of the American Society of Nephrology : JASN
SN - 1046-6673
IS - 11
ER -
ID: 14665587