A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin

K Dahan, O Devuyst, M Smaers… - Journal of the …, 2003 - journals.lww.com
Familial juvenile hyperuricemic nephropathy (FJHN [MIM 162000]) is an autosomal-
dominant disorder characterized by abnormal tubular handling of urate and late
development of chronic interstitial nephritis leading to progressive renal failure. A locus for
FJHN was previously identified on chromosome 16p12 close to the MCKD2 locus, which is
responsible for a variety of autosomal-dominant medullary cystic kidney disease (MCKD2).
UMOD, the gene encoding the Tamm-Horsfall/uromodulin protein, maps within the …