A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.

Abstract excerpt

BACKGROUND: Autosomal dominant polycystic kidney disease is a common monogenic hereditary kidney disorder. Mutations in the PKD1 gene lead to the development of fluid-filled cysts in the kidney, liver, and other organs, which can eventually result in end-stage renal failure. Affected individuals have a 50% chance of passing the mutation to each of their offspring. Families with ADPKD are advised to undergo...

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