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. Author manuscript; available in PMC: 2016 Apr 1.
Published in final edited form as: Kidney Int. 2015 Jul 22;88(4):699–710. doi: 10.1038/ki.2015.207

Figure 1. Dosage dependent disease mechanism in PKD1.

Figure 1

The level of functional PC1 (bottom) directly influences the renal phenotype with a ~50% reduction (haploinsufficiency due to a single inactivating allele) associated with adult onset disease and no PC1 incompatible with life. Incompletely penetrant (hypomorphic) PC1 alleles of different strengths and combinations can significantly influence the renal phenotype. The PC1 allele p.Y528C has a phenotype similar to PKD267 while p.R3277C can result in a few cysts, adult onset disease or early onset disease depending on the in trans combination32, 36. Additional mutations/variants at the disease locus and elsewhere (somatic and germline), along with chance and environmental factors influence the disease course by determining the frequency of cyst development.