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Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy

Overview of attention for article published in Circulation: Genomic and Precision Medicine, April 2017
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • One of the highest-scoring outputs from this source (#10 of 1,067)
  • High Attention Score compared to outputs of the same age (98th percentile)
  • High Attention Score compared to outputs of the same age and source (99th percentile)

Mentioned by

news
26 news outlets
blogs
1 blog
policy
1 policy source
twitter
34 X users
wikipedia
2 Wikipedia pages
googleplus
2 Google+ users

Citations

dimensions_citation
129 Dimensions

Readers on

mendeley
130 Mendeley
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Title
Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy
Published in
Circulation: Genomic and Precision Medicine, April 2017
DOI 10.1161/circgenetics.116.001605
Pubmed ID
Authors

Bongani M Mayosi, Maryam Fish, Gasnat Shaboodien, Elisa Mastantuono, Sarah Kraus, Thomas Wieland, Maria-Christina Kotta, Ashley Chin, Nakita Laing, Ntobeko B A Ntusi, Michael Chong, Christopher Horsfall, Simon N Pimstone, Davide Gentilini, Gianfranco Parati, Tim-Matthias Strom, Thomas Meitinger, Guillaume Pare, Peter J Schwartz, Lia Crotti

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous condition caused by mutations in genes encoding desmosomal proteins in up to 60% of cases. The 40% of genotype-negative cases point to the need of identifying novel genetic substrates by studying genotype-negative ARVC families. Whole exome sequencing was performed on 2 cousins with ARVC. Validation of 13 heterozygous variants that survived internal quality and frequency filters was performed by Sanger sequencing. These variants were also genotyped in all family members to establish genotype-phenotype cosegregation. High-resolution melting analysis followed by Sanger sequencing was used to screen for mutations in cadherin 2 (CDH2) gene in unrelated genotype-negative patients with ARVC. In a 3-generation family, we identified by whole exome sequencing a novel mutation in CDH2 (c.686A>C, p.Gln229Pro) that cosegregated with ARVC in affected family members. The CDH2 c.686A>C variant was not present in >200 000 chromosomes available through public databases, which changes a conserved amino acid of cadherin 2 protein and is supported as the causal mutation by parametric linkage analysis. We subsequently screened 73 genotype-negative ARVC probands tested previously for mutations in known ARVC genes and found an additional likely pathogenic variant in CDH2 (c.1219G>A, p.Asp407Asn). CDH2 encodes cadherin 2 (also known as N-cadherin), a protein that plays a vital role in cell adhesion, making it a biologically plausible candidate gene in ARVC pathogenesis. These data implicate CDH2 mutations as novel genetic causes of ARVC and contribute to a more complete identification of disease genes involved in cardiomyopathy.

X Demographics

X Demographics

The data shown below were collected from the profiles of 34 X users 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 130 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 <1%
Unknown 129 99%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 21 16%
Researcher 18 14%
Student > Master 12 9%
Student > Bachelor 11 8%
Student > Postgraduate 6 5%
Other 20 15%
Unknown 42 32%
Readers by discipline Count As %
Medicine and Dentistry 36 28%
Biochemistry, Genetics and Molecular Biology 21 16%
Agricultural and Biological Sciences 13 10%
Pharmacology, Toxicology and Pharmaceutical Science 3 2%
Nursing and Health Professions 2 2%
Other 9 7%
Unknown 46 35%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 223. 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 24 November 2023.
All research outputs
#173,791
of 25,554,853 outputs
Outputs from Circulation: Genomic and Precision Medicine
#10
of 1,067 outputs
Outputs of similar age
#3,720
of 324,379 outputs
Outputs of similar age from Circulation: Genomic and Precision Medicine
#1
of 13 outputs
Altmetric has tracked 25,554,853 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,067 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 13.9. This one has done particularly well, scoring higher than 99% 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 324,379 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 98% of its contemporaries.
We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 99% of its contemporaries.