Figure 2From: A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney DiseaseInheritance ofPKD1novel variant (p.H1769Y) and mutation (p.Q2243X). (A) Renal ultrasound analysis of patients inheriting the PKD1 novel variant (p.H1769Y) and mutation (p.Q2243X). Patient (II-3) had normal kidney size with a total of 7 renal cysts. Patient (II-4) showed extremely enlarged kidneys with multiple renal cysts and a GFR of 25Â mL/min/1.73Â m2 at the age of 52. Patients (II-6) showed extremely enlarged kidneys with multiple renal cysts and reached renal failure at the age of 29. Patient (II-7) showed extremely enlarged kidneys with multiple cysts at the age of 25. White arrows showing large cysts (B) Multi sequence alignment of polycystin-1 orthologs showing conservation of p.H1769.Back to article page