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. Author manuscript; available in PMC: 2019 Jan 1.
Published in final edited form as: Kidney Int. 2017 Oct 12;93(1):204–213. doi: 10.1016/j.kint.2017.06.025

Figure 1. Flow diagram on detection by WES of causative monogenic mutations in 30 NL/NC genes in 51 families with NL/ NC.

Figure 1

51 families of 100 available families with NL/NC were tested by WES for detection of monogenic causation of stone disease. A causative mutation was detected in a known NL/NC gene in 15 of 51 families (29.4%). A causative mutation was detected in a phenocopy gene (CTNS) in one patient with nephrocalcinosis. 35 families remain unsolved.