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A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.

Authors
Type
Published Article
Journal
American Journal of Kidney Diseases
1523-6838
Publisher
Elsevier
Publication Date
Volume
46
Issue
1
Pages
52–57
Identifiers
PMID: 15983957
Source
Medline
License
Unknown

Abstract

Our data show a novel mutation pattern in UMOD , suggesting that exon 5 mutations can be more frequent in some populations. Our results support that every exon of the UMOD gene must be included in molecular testing and provide additional evidence for the existence of a fourth calcium-binding epidermal growth factor-like domain in the structure of Tamm-Horsfall protein. A second family reported to date is described, confirming that the GCKD phenotype may be caused by a UMOD mutation.

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