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Exploring digenic inheritance in arrhythmogenic cardiomyopathy

Overview of attention for article published in BMC Medical Genetics, December 2017
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Title
Exploring digenic inheritance in arrhythmogenic cardiomyopathy
Published in
BMC Medical Genetics, December 2017
DOI 10.1186/s12881-017-0503-7
Pubmed ID
Authors

Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S. Domingues, Elena Sommariva, Alessandra Rossini

Abstract

Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental factors. We used whole exome sequencing to investigate digenic inheritance in two ACM families where previous diagnostic tests have revealed a PKP2 mutation in all affected and some healthy individuals. In family members with PKP2 mutations we determined all genes that harbor variants in affected but not in healthy carriers or vice versa. We computationally prioritized the most likely candidates, focusing on known ACM genes and genes related to PKP2 through protein interactions, functional relationships, or shared biological processes. We identified four candidate genes in family 1, namely DAG1, DAB2IP, CTBP2 and TCF25, and eleven candidate genes in family 2. The most promising gene in the second family is TTN, a gene previously associated with ACM, in which the affected individual harbors two rare deleterious-predicted missense variants, one of which is located in the protein's only serine kinase domain. In this study we report genes that might act as digenic players in ACM pathogenesis, on the basis of co-segregation with PKP2 mutations. Validation in larger cohorts is still required to prove the utility of this model.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters 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 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 32 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 25%
Student > Doctoral Student 3 9%
Student > Ph. D. Student 3 9%
Student > Bachelor 3 9%
Student > Master 3 9%
Other 3 9%
Unknown 9 28%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 28%
Medicine and Dentistry 5 16%
Agricultural and Biological Sciences 4 13%
Computer Science 2 6%
Veterinary Science and Veterinary Medicine 1 3%
Other 2 6%
Unknown 9 28%

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 10 December 2017.
All research outputs
#13,317,511
of 17,366,233 outputs
Outputs from BMC Medical Genetics
#544
of 964 outputs
Outputs of similar age
#280,639
of 417,554 outputs
Outputs of similar age from BMC Medical Genetics
#37
of 80 outputs
Altmetric has tracked 17,366,233 research outputs across all sources so far. This one is in the 20th percentile – i.e., 20% of other outputs scored the same or lower than it.
So far Altmetric has tracked 964 research outputs from this source. They receive a mean Attention Score of 3.6. This one is in the 37th percentile – i.e., 37% of its peers scored the same or lower than it.
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We're also able to compare this research output to 80 others from the same source and published within six weeks on either side of this one. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.