A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data Article Swipe
Maria Bueno Marinas
,
Marco Cason
,
Riccardo Bariani
,
Rudy Celeghin
,
Monica De Gaspari
,
Serena Pinci
,
Alberto Cipriani
,
Ilaria Rigato
,
Alessandro Zorzi
,
Stefania Rizzo
,
Gaetano Thiene
,
Martina Perazzolo Marra
,
Domenico Corrado
,
Cristina Basso
,
Barbara Bauce
,
Kalliopi Pilichou
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3390/ijms25116267
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3390/ijms25116267
Arrhythmogenic cardiomyopathy (ACM) is an inherited myocardial disease at risk of sudden death. Genetic testing impacts greatly in ACM diagnosis, but gene-disease associations have yet to be determined for the increasing number of genes included in clinical panels. Genetic variants evaluation was undertaken for the most relevant non-desmosomal disease genes. We retrospectively studied 320 unrelated Italian ACM patients, including 243 cases with predominant right-ventricular (ARVC) and 77 cases with predominant left-ventricular (ALVC) involvement, who did not carry pathogenic/likely pathogenic (P/LP) variants in desmosome-coding genes. The aim was to assess rare genetic variants in transmembrane protein 43 (TMEM43), desmin (DES), phospholamban (PLN), filamin c (FLNC), cadherin 2 (CDH2), and tight junction protein 1 (TJP1), based on current adjudication guidelines and reappraisal on reported literature data. Thirty-five rare genetic variants, including 23 (64%) P/LP, were identified in 39 patients (16/243 ARVC; 23/77 ALVC): 22 FLNC, 9 DES, 2 TMEM43, and 2 CDH2. No P/LP variants were found in PLN and TJP1 genes. Gene-based burden analysis, including P/LP variants reported in literature, showed significant enrichment for TMEM43 (3.79-fold), DES (10.31-fold), PLN (117.8-fold) and FLNC (107-fold). A non-desmosomal rare genetic variant is found in a minority of ARVC patients but in about one third of ALVC patients; as such, clinical decision-making should be driven by genes with robust evidence. More than two thirds of non-desmosomal P/LP variants occur in FLNC.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/ijms25116267
- https://www.mdpi.com/1422-0067/25/11/6267/pdf?version=1717666505
- OA Status
- gold
- Cited By
- 7
- References
- 61
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4399382555
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4399382555Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3390/ijms25116267Digital Object Identifier
- Title
-
A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived DataWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-06-06Full publication date if available
- Authors
-
Maria Bueno Marinas, Marco Cason, Riccardo Bariani, Rudy Celeghin, Monica De Gaspari, Serena Pinci, Alberto Cipriani, Ilaria Rigato, Alessandro Zorzi, Stefania Rizzo, Gaetano Thiene, Martina Perazzolo Marra, Domenico Corrado, Cristina Basso, Barbara Bauce, Kalliopi PilichouList of authors in order
- Landing page
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https://doi.org/10.3390/ijms25116267Publisher landing page
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https://www.mdpi.com/1422-0067/25/11/6267/pdf?version=1717666505Direct link to full text PDF
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://www.mdpi.com/1422-0067/25/11/6267/pdf?version=1717666505Direct OA link when available
- Concepts
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Gene, Genetics, Desmosome, Biology, Medicine, CellTop concepts (fields/topics) attached by OpenAlex
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7Total citation count in OpenAlex
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2025: 7Per-year citation counts (last 5 years)
- References (count)
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61Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| primary_location.raw_source_name | International Journal of Molecular Sciences |
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| publication_date | 2024-06-06 |
| publication_year | 2024 |
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