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A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

Overview of attention for article published in BMC Pediatrics, June 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (69th percentile)

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Title
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
Published in
BMC Pediatrics, June 2018
DOI 10.1186/s12887-018-1185-9
Pubmed ID
Authors

Dinesha Maduri Vidanapathirana, Subashinie Jayasena, Eresha Jasinge, Blanka Stiburkova

Abstract

Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute kidney injury. Type 1 is caused by dysfunctional variants in the SLC22A12 gene (URAT1), while type 2 is caused by defects in the SLC2A9 gene (GLUT9). To date, more than 150 patients with the loss-of-function mutations for the SLC22A12 gene have been found (compound heterozygotes and/or homozygotes), most of whom are Japanese and Koreans. 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. This variant has been previously identified in homozygous and/or compound heterozygous state with other causative SLC22A12 variant c.1245_1253del (p.L415_G417del) in Roma population. This is the first identification of a family with mild renal hypouricemia1 associated to the p.T467 M variant. Detailed investigations of urate blood and urine concentrations in patients with unexplained hypouricemia are needed and renal hypouricemia should also be considered in patients other than those from Japan and/or Korea. Our finding confirms an uneven geographical and ethnic distribution of Romany prevalent SLC22A12 variant that need to be considered in Asian patients (population data Genome Aggregation Database: allele frequency in South Asia 0.007055, in East Asia 0.001330).

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 28%
Student > Postgraduate 3 17%
Student > Doctoral Student 2 11%
Student > Master 1 6%
Student > Bachelor 1 6%
Other 2 11%
Unknown 4 22%
Readers by discipline Count As %
Medicine and Dentistry 5 28%
Biochemistry, Genetics and Molecular Biology 4 22%
Nursing and Health Professions 3 17%
Psychology 1 6%
Unknown 5 28%

Attention Score in Context

This research output has an Altmetric Attention Score of 6. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 30 June 2018.
All research outputs
#3,045,963
of 13,160,482 outputs
Outputs from BMC Pediatrics
#447
of 1,599 outputs
Outputs of similar age
#79,418
of 268,223 outputs
Outputs of similar age from BMC Pediatrics
#1
of 1 outputs
Altmetric has tracked 13,160,482 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,599 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.9. This one has gotten more attention than average, scoring higher than 64% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 268,223 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 69% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them