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. Author manuscript; available in PMC: 2021 Feb 1.
Published in final edited form as: Kidney Int. 2019 Oct 9;97(2):370–382. doi: 10.1016/j.kint.2019.08.038

Figure 6. Regression comparison of eGFR and htTKV in mosaic subjects compared to PKD1 controls.

Figure 6.

The control populations (blue) are PKD1 patients with truncating (MSG1) or strongly predicted non-truncating changes (MSG2)9 from a MTPC cohort without known mosaicism; n=550 for eGFR and 403 for htTKV. The mosaic population is indicated in red and the percentage level of the mosaic allele compared to a fully penetrant allele is listed for each case. (A) The renal function analysis shows that the mosaic population (red) has a significantly higher eGFR than the controls (blue). (B) Analysis of renal structure shows that the mosaic population has a significantly lower htTKV than the controls. The htTKV is plotted on a log2 scale. No correlation was observed between the level of mosaicism and disease severity (eGFR or htTKV).