Which gene is most commonly mutated in autosomal dominant polycystic kidney disease (ADPKD)?
PKD1 gene codes for polycystin-1 and is located on chromosome 16p13.3. Polycystin-1 is expressed in tubular epithelial cells, paicularly those of the distal nephron. It contains domains that are usually involved in cell-cell and cell-matrix interactions. Mutations in PKD1 account for about 85% of cases. Numerous small cysts in the coex and medulla give the kidney a spongelike appearance. Cysts have a uniform lining of cuboidal cells. Multiple epithelium-lined liver cysts are also seen.
PKD1
PKD2
NHPS1
HEF
Polycystic Kidney Disease