PKD1 and autosomal dominant polycystic kidney disease: The ADPKD phenotype was caused by a novel, likely pathogenic mutation (c.8360G>C, p.R2787P) in PKD1, and the ALS phenotype was caused by a pathogenic variant (c.140A>G, p.H47R) in SOD1. This is the first reported family to have simultaneously co-occurring ADPKD and ALS.