Table 3. Twenty-one different SGLT2 mutations detected in 23 families with renal glucosuria

Sequence aberationPredicted effectaConfirmationbFamilyc
a fs…, frameshift mutation described by the last regular amino acid before the frameshift and the position of the predicted premature termination (X) of translation of the SGLT2 protein.
b mm denotes the use of a mismatch primer for DNA amplification (sequences available upon request), (+) stands for the gain and (−) for the loss of a restriction site for the given enzyme in the presence of the mutation. HD; heteroduplex formation on PAGE.
c Family numbers refer to Table 2 Numbers in boldface symbolize homozygosity; numbers in standard style symbolize heterozygosity for a given mutation.
d In addition to this Turkish family, the same mutation was detected in another Turkish family reported by van den Heuvel et al. (8); glucose excretion of the other case was 61.6 g/L; parents and sibilings were reported not to have glucosuria.
ex 02151 A > CT 51 P(+) Bgl I16
ex 03216 C > AF 72 L(+) Dde I13
ex 04313 G > AV 105 M(+) Nla III18
410 G > AR 137 Hmm (−) Not I15
448 T > CY 150 H(−) Rsa I20
ex 05500 del AI 166 fs… 186 XHD2
506 del CQ 168 fs… 186 X(−) Alw N I10
ex 07814 G > AG 272 R(+) Bst N I2
IVS 7+5 g > aabnormal splicing variantsmm (−) Bst U I3,4,11,12,23
ex 08920 T > CL 307 P(+) Ban II4
932 A > GK 311 Rmm (−) Mse I12
973–7 del ATGTTP 324 fs… 347 Xmm (+) Mnl I1
ex 091102 C > TR 368 W(+) Fnu 4 H I9
ex 101152–63 del 12Δ385–8HD15, 22
ex 111320 G > AW 440 X(−) Bst NI6d
1346 G > AG 449 Dmm (−) Nae I5
1359 C > AF 453 L(−) Taq I21
ex 121495 C > TR 499 C(−) Sph I20
1461–517 del 57W 487, Δ488–506HD7
1627 A > CT 543 P(+) Msp I17
ex 141951–92 del 42Δ651–64HD8