Article
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Dec 2017
Edwards Noel, Olinger Eric, Adam Jennifer, Kelly Michael, Schiano Guglielmo, Ramsbottom Simon A, Sandford Richard, Devuyst Olivier, Sayer John A
Abstract excerpt
Heterozygous mutations in UMOD encoding the urinary protein uromodulin are the most common genetic cause of autosomal dominant tubulointerstitial kidney disease (ADTKD). We describe the exceptional case of a patient from a consanguineous family carrying a novel homozygous UMOD mutation (p.C120Y) affecting a conserved cysteine residue within the EGF-like domain III of uromodulin. Comparison of heterozygote and...
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