Another study [32] described a patient with pathogenic variants in both PKD1 (c.11648_11660dup; p. Phe3888fs) and COL4A4 (c.3418_3424del; p. Leu1140fs), leading to diagnoses of both ADPKD and AS. The gene discussed is PKD1; the disease is autosomal dominant polycystic kidney disease.