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    HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum

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    URI
    http://hdl.handle.net/11287/593927
    Author
    Clissold, Rhian L.
    Hamilton, Alexander J.
    Hattersley, Andrew T.
    Ellard, Sian
    Bingham, Coralie
    Date
    2015-02-01
    Journal
    Nature reviews. Nephrology
    Type
    Journal Article
    Research Support, Non-U.S. Gov't
    Review
    Publisher
    Nature
    DOI
    10.1038/nrneph.2014.232
    Metadata
    Show full item record
    Abstract
    Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1beta (HNF1B) represent the most common known monogenic cause of developmental kidney disease. Renal cysts are the most frequently detected feature of HNF1B-associated kidney disease; however, other structural abnormalities, including single kidneys and renal hypoplasia, and electrolyte abnormalities can also occur. Extra-renal phenotypes might also be observed; consequently, HNF1B-associated disease is considered a multi-system disorder. Other clinical features include early-onset diabetes mellitus, pancreatic hypoplasia, genital tract malformations, abnormal liver function and early-onset gout. Heterozygous mutations in the coding region or splice sites of HNF1B, and complete gene deletion, each account for approximately 50% of all cases of HNF1B-associated disease, respectively, and often arise spontaneously. There is no clear genotype-phenotype correlation, consistent with haploinsufficiency as the disease mechanism. Data from animal models suggest that HNF1B has an important function during several stages of nephrogenesis; however, the precise signalling pathways remain to be elucidated. This Review discusses the genetics and molecular pathways that lead to disease development, summarizes the reported renal and extra-renal phenotypes, and identifies areas for future research in HNF1B-associated disease.
    Citation
    Nat Rev Nephrol. 2015 Feb;11(2):102-12.
    Publisher URL
    http://dx.doi.org/10.1038/nrneph.2014.232
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    • 2015 RD&E publications
    • Honorary contracts publications
    • Molecular Genetics

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