ALG9 mutation carriers develop kidney and liver cysts
Background Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic
kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly
inherited polycystic kidney and liver diseases on the ADPKD spectrum are also caused by
mutations in at least six other genes required for protein biogenesis in the endoplasmic
reticulum, the loss of which results in defective production of the PKD1 gene product, the
membrane protein polycystin-1 (PC1). Methods We used whole-exome sequencing in a …
kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly
inherited polycystic kidney and liver diseases on the ADPKD spectrum are also caused by
mutations in at least six other genes required for protein biogenesis in the endoplasmic
reticulum, the loss of which results in defective production of the PKD1 gene product, the
membrane protein polycystin-1 (PC1). Methods We used whole-exome sequencing in a …