Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F11%3A9886" target="_blank" >RIV/00216208:11110/11:9886 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/11:9886
Result on the web
<a href="http://dx.doi.org/10.1016/j.ymgme.2010.12.016" target="_blank" >http://dx.doi.org/10.1016/j.ymgme.2010.12.016</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia
Original language description
We have found a Czech family with renal hypouricemia caused by a homozygous insertion in the SLC2A9 gene with no sequence variants in SLC22A12, SLC17A3, ABCC4 or ABCG2. Homozygous loss-of-function mutations in SLC2A9 cause massive renal hypouricemia viatotal loss of uric acid absorption, however, they do not necessarily lead to nephrolithiasis and acute kidney injury. Our finding of a defect in the SLC2A9 gene shows the following: a) it provides further evidence that SLC2A9 is a causative gene in renalhypouricemia type 2 with clinical distinctions; b) it supports the prediction that normal function of both URAT1 and GLUT9 are essential for normal uric acid reabsorption in the renal proximal tubule.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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