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. 2017 Nov 10;13(1):53–62. doi: 10.2215/CJN.04120417

Figure 4.

Figure 4.

Gene identification in a steroid-resistant nephrotic syndrome gene occurs in a statistically significant greater proportion of homozygous families (homozygosity >100 Mb) when compared to non-homozygous families (homozygosity <100 Mb) and in a statistically significant greater proportion of consanguineous families when compared to non-consanguineous families. Families in whom causative mutations in a known steroid-resistant nephrotic syndrome gene (blue) or a phenocopy gene (orange) were detected, compared with those families in whom no causative mutation was detected (gray). Bars and numbers at end of bars represent total number of families in each category, divided into those families with a causative mutation detected (blue), those families with a causative mutation detected in a phenocopy gene (orange), and those families without a causative mutation detected (gray). Percentages at end of each bar reflect the same three categories. Percentages>10% are rounded to the nearest whole number. Rate of detection of a causative mutation in a steroid-resistant nephrotic syndrome gene did not vary with number of affected individuals per family. Number of affected individuals per family did not have a statistically significant difference between one affected individual per family versus two affected individuals, or between one affected individual and ≥3 individuals. Mutation detection rate in a steroid-resistant nephrotic syndrome gene was significantly higher in those families that were reported clinically as consanguineous or had homozygosity on mapping >100 Mbp than those that were nonconsanguineous or had homozygosity<100 Mbp on mapping (two-sided chi-squared test P<0.001 for each condition). Data of the characteristics of the steroid-resistant nephrotic syndrome cohort compared with the subcohort of those families with a causative mutation detected in a steroid-resistant nephrotic syndrome gene or phenocopy gene are given in Supplemental Table 4. *Statistically significant. SRNS, steroid-resistant nephrotic syndrome.