|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The currently known genes responsible for RHUC are SLC22A12 and SLC2A9.
|
31771519 |
2019 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The rest of the patients presented homozygous, heterozygous or compound heterozygous mutations that have been previously identified in patients with RHUC; SLC22A12 p.T467M and p.L415_G417del, and SLC2A9 p.T125M.
|
29486147 |
2018 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Herein, we report a nine year old Sri Lankan boy with renal hypouricemia (serum uric acid 97 μmol/L, fractional excretion of uric acid 33%).The sequencing analysis of SLC22A12 revealed a potentially deleterious missense variant c.1400C > T (p.T467 M, rs200104135) in heterozygous state.
|
29958533 |
2018 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among several reported nonsynonymous URAT1 variants, R90H (rs121907896) and W258X (rs121907892) are frequent causative mutations for renal hypouricemia.
|
26821810 |
2016 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.
|
26500098 |
2016 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia.
|
27780716 |
2016 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The findings suggest that not only loss-of-function mutation of URAT1 but also the dominant-negative effect cause RHUC through loss of UA absorption, partly due to protein misfolding caused by accumulation of URAT1 protein in the endoplasmic reticulum.
|
26418379 |
2015 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.
|
26033041 |
2015 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The findings suggest that not only loss-of-function mutation of URAT1 but also the dominant-negative effect cause RHUC through loss of UA absorption, partly due to protein misfolding caused by accumulation of URAT1 protein in the endoplasmic reticulum.
|
26418379 |
2015 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in the SLC22A12 gene cause renal hypouricemia type 1 (RHUC1), whereas renal hypouricemia type 2 (RHUC2) is caused by mutations in the SLC2A9 gene.
|
24397858 |
2014 |
|
SLC22A12
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have previously reported that urate transporter 1 (URAT1/SLC22A12) and glucose transporter 9 (GLUT9/SLC2A9) are causative genes for renal hypouricemia type 1 (RHUC1) and renal hypouricemia type 2 (RHUC2), respectively.
|
24940677 |
2014 |
|
SLC22A12
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Posterior reversible encephalopathy syndrome with exercise-induced acute kidney injury in renal hypouricemia type 1.
|
23525542 |
2013 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
|
23386035 |
2013 |
|
SLC22A12
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
|
23386035 |
2013 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thus our report identifies two novel loss-of-function mutations (c.151delG in URAT1 and p.P516T in GLUT9) which cause RHUC and renal dysfunction in two independent RHUC pedigrees.
|
23043931 |
2013 |
|
SLC22A12
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.
|
22045201 |
2012 |
|
SLC22A12
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.
|
21366895 |
2011 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.
|
21148271 |
2011 |
|
SLC22A12
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.
|
21148271 |
2011 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Central nervous system complications seem to be rare in patients with RHU with SLC22A12 mutations.
|
21536615 |
2011 |
|
SLC22A12
|
0.800 |
Biomarker
|
disease |
CTD_human |
Increased expression of SLC2A9 decreases urate excretion from the kidney.
|
22132990 |
2011 |
|
SLC22A12
|
0.800 |
Biomarker
|
disease |
BEFREE |
Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli-Arab family.
|
19189137 |
2009 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The in vivo role of GLUT9 is supported by the fact that a renal hypouricemia patient without any mutations in SLC22A12 was found to have a missense mutation in SLC2A9, which reduced urate transport activity in vitro.
|
18701466 |
2008 |
|
SLC22A12
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia.
|
18492088 |
2008 |
|
SLC22A12
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia.
|
18492088 |
2008 |