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Mutations of the <i>UMOD</i> gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

Journal of Medical Genetics · 2002 · Vol. 39(12) · pp. 882–892

Thomas C. Hart✉(University of Pittsburgh)Michael C. Gorry(University of Pittsburgh)Patricia Hart✉(University of Pittsburgh)Amy S. Woodard(Baker Engineering (United States))Zak K. Shihabi(Wake Forest University)Jaspreet S. Sandhu(Cornell University)Brian H. Shirts(University of Pittsburgh)Linda Xu(University of Pittsburgh)Huaiqiu Zhu(Capital Medical University)M. Michael Barmada(University of Pittsburgh)Anthony J. Bleyer(Wake Forest University)

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Abstract

These data provide the first direct evidence that MCKD2 and FJHN arise from mutation of the UMOD gene and are allelic disorders. UMOD is a GPI anchored glycoprotein and the most abundant protein in normal urine. We postulate that mutation of UMOD disrupts the tertiary structure of UMOD and is responsible for the clinical changes of interstitial renal disease, polyuria, and hyperuricaemia found in MCKD2 and FJHN.

Kidney Stones and Urolithiasis Treatments Renal Diseases and Glomerulopathies Pediatric Urology and Nephrology StudiesTamm–Horsfall proteinNephropathyMedullary cavityMedicineMutationGeneticsDiseaseGeneKidney diseaseJuvenile

MeSH terms

AllelesBase SequenceChild, PreschoolChromosome MappingChromosomes, Human, Pair 16DNA Mutational AnalysisExonsFemaleGenetic MarkersGoutHaplotypesHumansLod ScoreMaleMucoproteins