Table 3

Kinetics of C-peptide and blood glucose during MMTT in probands with novel variants

Affected geneCP kineticsBG kinetics
AUC, pmol/L/180 minCPBase, pmol/LCPmax, pmol/LCPAve, pmol/LAUC,
mmol/L/180 min
BGBase, mmol/LBGmax, mmol/LBGAve, mmol/L
1. /RFX28113010.21529.725.218.8
2. /RREB15802110970.31067.316.813
3. /SLC5A14431761289.620.615.7
4. /GCKR383386847.61056.917.812.9
5. /MC4R3702287585451.3947.814.111.5
6. /CASP102952311471348.2374.74.94.7
7. /TMPRSS6115952258144.61291219.615.9
8. /HGFAC4432302830531.21196.819.714.6
9. /DACH137212587722.211.3
10. /SLC5A1*4201253725515.71058.317.313.1
11. /ZBED3421145.81138.218.814
12. /SLC5A1*256176932.31188.120.814.7
  • Probands with CPmax >200 pmol/L are in bold.

  • *The same DNA change in SLC5A1 gene, probands are siblings.

  • AUC, area under the curve; BG, blood glucose; BGAve, the average of blood glucose; BGBase, the baseline level of blood glucose; BGmax, the peak of blood glucose; CP, C-peptide; CPAve, the average of C-peptide; CPBase, the baseline level of C-peptide; CPmax, the peak of C-peptide; MMTT, mixed meal tolerance test.