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Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

Overview of attention for article published in Journal of Medical Case Reports, March 2018
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Title
Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report
Published in
Journal of Medical Case Reports, March 2018
DOI 10.1186/s13256-018-1608-0
Pubmed ID
Authors

Omid Daneshjoo, Masoud Garshasbi

Abstract

Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disease. Mutations in the ATP7B gene are the major cause of Wilson disease. In this study we have screened one pedigree with several affected members, including a 24-year-old Iranian woman and a 20-year-old Iranian man, who showed psychiatric and neurological symptoms of varying severity, by amplifying the coding regions including exon-intron boundaries with polymerase chain reaction and sequencing. We identified c.1924G>C and c.3809A>G mutations in affected members as compound heterozygote state. These mutations segregated with the disease in the family and they were absent in a cohort of 100 Iranian ethnicity-matched healthy controls. No homozygote state has been reported for these two variants in public databases. In silico predicting tools consider these two variants to be damaging. So this study introduces the novel combination of c.1924G>C and c.3809A>G variants as a cause for Wilson disease.

Twitter Demographics

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

Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 16%
Student > Master 3 16%
Student > Bachelor 3 16%
Researcher 2 11%
Student > Doctoral Student 2 11%
Other 2 11%
Unknown 4 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 6 32%
Medicine and Dentistry 3 16%
Unspecified 2 11%
Pharmacology, Toxicology and Pharmaceutical Science 1 5%
Neuroscience 1 5%
Other 1 5%
Unknown 5 26%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 16 March 2018.
All research outputs
#10,122,868
of 12,662,564 outputs
Outputs from Journal of Medical Case Reports
#1,152
of 2,099 outputs
Outputs of similar age
#205,940
of 274,306 outputs
Outputs of similar age from Journal of Medical Case Reports
#1
of 1 outputs
Altmetric has tracked 12,662,564 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,099 research outputs from this source. They receive a mean Attention Score of 3.2. This one is in the 19th percentile – i.e., 19% of its peers scored the same or lower than it.
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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