Table 4.

Results With Whole Genome Sequencing in Patients With CKD

Study	Participants	Key Results
Lanktree et al 201851	Results from 2 large databases were used to measure the frequency of high-confidence mutations presumed to be causative in ADPKD and ADPLD	Genes potentially relevant as cyst modifiers and truncating mutations in ADPLD genes were identified in 103.9 and 20.2 per 10,000 sequenced, respectively. A greater-than-expected frequency of loss-of-function mutations in ADPLD genes also suggested the possibility of unrecognized cases and incomplete penetrance.
Guo et al 202052	Finnish siblings with type 1 diabetes who were discordant for the presence or absence of diabetic nephropathy	Diabetic nephropathy-associated variants were enriched in a network representing proteins essential for podocyte function when clustered at the gene level and include protein kinases and protein tyrosine kinase 2.
Larrue et al 202053	2 patients with nephronophthisis	WGS identified 2 putative disease-causing intronic mutations in the NPHP3 gene, including one deep intronic variant. Both affected splicing, resulting in a truncated nephrocystin-3 protein.
Levine et al 202054	146 patients with primary membranoproliferative GN and 6,442 individuals without kidney disease (controls)	A significant common variant locus was identified at 6p21.32 (rs35406322) overlapping the HLA locus.

Abbreviations: ADPKD, autosomal dominant polycystic kidney disease; ADPLD, autosomal dominant polycystic liver disease; CKD, chronic kidney disease; GN, glomerulonephropathy; HLA, human leukocyte antigen; NPHP3, nephrocystin 3; WGS, whole genome sequencing.