A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.
Humans
Arrhythmogenic Right Ventricular Dysplasia
/ genetics
Female
Male
Adult
Middle Aged
Membrane Proteins
/ genetics
Cadherins
/ genetics
Desmosomes
/ genetics
Genetic Predisposition to Disease
Genetic Variation
Filamins
/ genetics
Retrospective Studies
Italy
Calcium-Binding Proteins
/ genetics
Antigens, CD
/ genetics
DES
FLNC
TMEM43
arrhythmogenic cardiomyopathy
dilated cardiomyopathy
“non-desmosomal” genes
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
06 Jun 2024
06 Jun 2024
Historique:
received:
10
05
2024
revised:
31
05
2024
accepted:
02
06
2024
medline:
19
6
2024
pubmed:
19
6
2024
entrez:
19
6
2024
Statut:
epublish
Résumé
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 (
Identifiants
pubmed: 38892455
pii: ijms25116267
doi: 10.3390/ijms25116267
pii:
doi:
Substances chimiques
Membrane Proteins
0
Cadherins
0
Filamins
0
phospholamban
0
TMEM43 protein, human
0
FLNC protein, human
0
CDH2 protein, human
0
Calcium-Binding Proteins
0
Antigens, CD
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Veneto Region, Italy
ID : Regional Registry for Cardio-cerebro-vascular Pathology,
Organisme : Ministry of Health, Italy
ID : RF-2019-12370183
Organisme : Ministry of Education, University and Research, Italy
ID : 20173ZWACS
Organisme : Ministry of Education, University and Research, Italy
ID : 20229FE439
Organisme : University Research Grants, Padua, Italy
ID : BIRD212725