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Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report

Overview of attention for article published in BMC Medical Genetics, December 2014
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  • Good Attention Score compared to outputs of the same age (69th percentile)
  • High Attention Score compared to outputs of the same age and source (86th percentile)

Mentioned by

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1 tweeter
wikipedia
1 Wikipedia page

Citations

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25 Dimensions

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33 Mendeley
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Title
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report
Published in
BMC Medical Genetics, December 2014
DOI 10.1186/s12881-014-0135-0
Pubmed ID
Authors

Hanan Hamamy, Periklis Makrythanasis, Nasir Al-Allawi, Abdulrahman A Muhsin, Stylianos E Antonarakis

Abstract

BackgroundInherited thrombocytopenias (IT) are a heterogeneous group of rare diseases characterized by a reduced number of blood platelets. The frequency of IT is probably underestimated because of diagnostic difficulties and because not all the existing forms have as yet been identified, with some patients remaining without a definitive diagnosis. Exome Sequencing has made possible the identification of almost all variants in the coding regions of protein-coding genes, thereby providing the opportunity to identify the disease causing gene in a number of patients with indefinite diagnoses, specifically in consanguineous families.Case presentationFamilial thrombocytopenia with small size platelets was present in several members of a highly consanguineous family from Northern Iraq. Genotyping of all affected, their unaffected siblings and parents, followed by exome sequencing revealed a strong candidate loss of function variant in a homozygous state: a frameshift mutation in the FYB gene. The protein encoded by this gene is known to be a cytosolic adaptor molecule expressed by T, natural killer (NK), myeloid cells and platelets, and is involved in platelet activation and controls the expression of interleukin-2. Knock-out mice were reported to show isolated thrombocytopenia.ConclusionInherited thrombocytopenias differ in their presentation, associated features, and molecular etiologies. An accurate diagnosis is needed to provide appropriate management as well as counseling for the individuals and their family members. Exome sequencing may become a first diagnostic tool to identify the molecular basis of undiagnosed familial IT. In this report, the clinical evaluation combined with the power and efficiency of genomic analysis defined the FYB gene as the possible underlying cause of autosomal recessive thrombocytopenia with small platelet size. This is the first report linking pathogenic variants in FYB and thrombocytopenia in humans.

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 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 33 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 9 27%
Researcher 6 18%
Student > Bachelor 4 12%
Other 3 9%
Student > Doctoral Student 2 6%
Other 4 12%
Unknown 5 15%
Readers by discipline Count As %
Agricultural and Biological Sciences 8 24%
Biochemistry, Genetics and Molecular Biology 6 18%
Medicine and Dentistry 6 18%
Pharmacology, Toxicology and Pharmaceutical Science 2 6%
Psychology 2 6%
Other 4 12%
Unknown 5 15%

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 31 August 2017.
All research outputs
#6,515,070
of 20,739,472 outputs
Outputs from BMC Medical Genetics
#179
of 1,001 outputs
Outputs of similar age
#98,810
of 340,253 outputs
Outputs of similar age from BMC Medical Genetics
#8
of 72 outputs
Altmetric has tracked 20,739,472 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
So far Altmetric has tracked 1,001 research outputs from this source. They receive a mean Attention Score of 3.8. This one has done well, scoring higher than 81% 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 340,253 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 72 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 86% of its contemporaries.