Evaluating Mendelian nephrotic syndrome genes for evidence of risk alleles or oligogenicity that explain heritability

BackgroundMore than 30 genes can harbor rare exonic variants sufficient to cause nephrotic syndrome (NS), and the number of genes implicated in monogenic NS continues to grow. However, outside the first year of life, the majority of affected patients, particularly in ancestrally mixed populations, do not have a known monogenic form of NS. Even in those children classified with a monogenic form of NS, there is phenotypic heterogeneity. Thus, we have only discovered a fraction of the heritability of NS - the underlying genetic factors contributing to phenotypic variation. Part of the \"missing heritability\" for NS has been posited to be explained by patients harboring coding variants across o