Predicted mutation strength of nontruncating PKD1 mutations aids genotype-phenotype correlations in autosomal dominant polycystic kidney disease

CM Heyer, JL Sundsbak, KZ Abebe… - Journal of the …, 2016 - journals.lww.com
Autosomal dominant polycystic kidney disease (ADPKD) often results in ESRD but with a
highly variable course. Mutations to PKD1 or PKD2 cause ADPKD; both loci have high
levels of allelic heterogeneity. We evaluated genotype-phenotype correlations in 1119
patients (945 families) from the HALT Progression of PKD Study and the Consortium of
Radiologic Imaging Study of PKD Study. The population was defined as: 77.7% PKD1,
14.7% PKD2, and 7.6% with no mutation detected (NMD). Phenotypic end points were sex …