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Results

We performed WES on 18 patients with findings of multiple bilateral kidney cysts that were either classified as NMD-ADPKD (13 patients) or carried a diagnosis of TBM disease (5 patients). The 13 patients with NMD-ADPKD were part of National Institutes of Health–sponsored longitudinal ADPKD studies and were known to be negative for underlying mutations in PKD1 or PKD2 (Supplementary Methods S1–S17). Rare variants with an ethnicity-specific population minor allele frequency cutoff of 0.01% for heterozygous variants and 0.1% for recessive variants qualified as “pathogenic mutations” if they met the criteria of a predicted loss of function or as “likely pathogenic mutations” if they were missense variants deemed deleterious on bioinformatics predictions of MetaSVM and Mutation Taster (Supplementary Methods).