↓ Skip to main content

Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis

Overview of attention for article published in Jornal de Pediatria, July 2015
Altmetric Badge

About this Attention Score

  • Good Attention Score compared to outputs of the same age (66th percentile)
  • Good Attention Score compared to outputs of the same age and source (70th percentile)

Mentioned by

policy
1 policy source
twitter
1 X user

Citations

dimensions_citation
14 Dimensions

Readers on

mendeley
94 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis
Published in
Jornal de Pediatria, July 2015
DOI 10.1016/j.jped.2015.02.002
Pubmed ID
Authors

Paula Cristina Barros Pereira, Flávia Medeiros Melo, Luiz Armando Cunha De Marco, Eduardo Araújo Oliveira, Débora Marques Miranda, Ana Cristina Simões e Silva

Abstract

Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to impaired renal acid excretion. The aim of this study was to demonstrate the genetic diagnosis of four children with dRTA through use of whole-exome sequencing. Two unrelated families were selected; a total of four children with dRTA and their parents, in order to perform whole-exome sequencing. Hearing was preserved in both children from the first family, but not in the second, wherein a twin pair had severe deafness. Whole-exome sequencing was performed in two pooled samples and findings were confirmed with Sanger sequencing method. Two mutations were identified in the ATP6V0A4 and ATP6V1B1 genes. In the first family, a novel mutation in the exon 13 of the ATP6V0A4 gene with a single nucleotide change GAC→TAC (c.1232G>T) was found, which caused a substitution of aspartic acid to tyrosine in position 411. In the second family, a homozygous recurrent mutation with one base-pair insertion (c.1149_1155insC) in exon 12 of the ATP6V1B1 gene was detected. These results confirm the value of whole-exome sequencing for the study of rare and complex genetic nephropathies, allowing the identification of novel and recurrent mutations. Furthermore, for the first time the application of this molecular method in renal tubular diseases has been clearly demonstrated.

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 94 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
China 1 1%
Unknown 93 99%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 7%
Student > Doctoral Student 3 3%
Researcher 3 3%
Student > Bachelor 2 2%
Other 2 2%
Other 6 6%
Unknown 71 76%
Readers by discipline Count As %
Medicine and Dentistry 7 7%
Agricultural and Biological Sciences 6 6%
Biochemistry, Genetics and Molecular Biology 4 4%
Immunology and Microbiology 2 2%
Computer Science 1 1%
Other 1 1%
Unknown 73 78%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 22 October 2019.
All research outputs
#8,261,140
of 25,371,288 outputs
Outputs from Jornal de Pediatria
#214
of 896 outputs
Outputs of similar age
#90,319
of 275,271 outputs
Outputs of similar age from Jornal de Pediatria
#4
of 17 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. This one has received more attention than most of these and is in the 66th percentile.
So far Altmetric has tracked 896 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.6. This one has gotten more attention than average, scoring higher than 74% 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 275,271 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 66% of its contemporaries.
We're also able to compare this research output to 17 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 70% of its contemporaries.