Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F23%3AN0000037" target="_blank" >RIV/00023728:_____/23:N0000037 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/23:10458789 RIV/00064165:_____/23:10458789
Result on the web
<a href="https://doi.org/10.3389/fgene.2022.1048330" target="_blank" >https://doi.org/10.3389/fgene.2022.1048330</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3389/fgene.2022.1048330" target="_blank" >10.3389/fgene.2022.1048330</a>
Alternative languages
Result language
angličtina
Original language name
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2.
Original language description
Renal hypouricemia (RHUC) is a pathological condition characterized by extremely low serum urate and overexcretion of urate in the kidney; this inheritable disorder is classified into type 1 and type 2 based on causative genes encoding physiologically-important urate transporters, URAT1 and GLUT9, respectively; however, research on RHUC type 2 is still behind type 1. We herein describe a typical familial case of RHUC type 2 found in a Slovak family with severe hypouricemia and hyperuricosuria. Via clinico-genetic analyses including whole exome sequencing and in vitro functional assays, we identified an intronic GLUT9 variant, c.1419+1G>A, as the causal mutation that could lead the expression of p.Gly431GlufsTer28, a functionally-null variant resulting from exon 11 skipping. The causal relationship was also confirmed in another unrelated Macedonian family with mild hypouricemia. Accordingly, non-coding regions should be also kept in mind during genetic diagnosis for hypouricemia. Our findings provide a better pathogenic understanding of RHUC and pathophysiological importance of GLUT9.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Frontiers in Genetics
ISSN
1664-8021
e-ISSN
1664-8021
Volume of the periodical
13
Issue of the periodical within the volume
Art. Nr. 1048330
Country of publishing house
CH - SWITZERLAND
Number of pages
10
Pages from-to
1-10
UT code for WoS article
000923716300001
EID of the result in the Scopus database
2-s2.0-85147272661