Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
arrhythmogenic cardiomyopathy
cardiovascular genetics
common variants
desmosomal genes
genotype-phenotype correlation
rare variants
Journal
Biomolecules
ISSN: 2218-273X
Titre abrégé: Biomolecules
Pays: Switzerland
ID NLM: 101596414
Informations de publication
Date de publication:
28 07 2022
28 07 2022
Historique:
received:
22
06
2022
revised:
18
07
2022
accepted:
25
07
2022
entrez:
26
8
2022
pubmed:
27
8
2022
medline:
30
8
2022
Statut:
epublish
Résumé
Arrhythmogenic cardiomyopathy (ACM) is a rare inherited disorder, whose genetic cause is elusive in about 50-70% of cases. ACM presents a variable disease course which could be influenced by genetics. We performed next-generation sequencing on a panel of 174 genes associated with inherited cardiovascular diseases on 82 ACM probands (i) to describe and classify the pathogenicity of rare variants according to the American College of Medical Genetics and Genomics both for ACM-associated genes and for genes linked to other cardiovascular genetic conditions; (ii) to assess, for the first time, the impact of common variants on the ACM clinical disease severity by genotype-phenotype correlation and survival analysis. We identified 15 (likely) pathogenic variants and 66 variants of uncertain significance in ACM-genes and 4 high-impact variants in genes never associated with ACM (
Identifiants
pubmed: 36008935
pii: biom12081043
doi: 10.3390/biom12081043
pmc: PMC9405889
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
J Cardiovasc Dev Dis. 2021 Sep 09;8(9):
pubmed: 34564127
Int J Cardiol. 2020 Nov 15;319:106-114
pubmed: 32561223
Nat Genet. 2004 Apr;36(4):382-7
pubmed: 15034580
Cardiovasc Res. 2006 Aug 1;71(3):496-505
pubmed: 16769042
J Int Med Res. 2021 Apr;49(4):3000605211006598
pubmed: 33823640
Curr Opin Cardiol. 2011 May;26(3):196-203
pubmed: 21430528
Europace. 2010 Jun;12(6):861-8
pubmed: 20400443
J Med Genet. 2020 Apr;57(4):254-257
pubmed: 31924696
Int J Mol Sci. 2020 Sep 02;21(17):
pubmed: 32887493
Eur J Heart Fail. 2019 Jun;21(6):792-800
pubmed: 30790397
BMC Med Genet. 2017 Dec 8;18(1):145
pubmed: 29221435
Eur J Hum Genet. 2013 Sep;21(9):911-7
pubmed: 23321620
Genet Med. 2017 Oct;19(10):1151-1158
pubmed: 28518168
Circ Res. 2012 Sep 14;111(7):907-19
pubmed: 22821932
Circ Res. 2017 Sep 15;121(7):749-770
pubmed: 28912181
Atherosclerosis. 2017 Oct;265:60-70
pubmed: 28865324
Circ Arrhythm Electrophysiol. 2020 Dec;13(12):e009005
pubmed: 33197325
J Am Coll Cardiol. 2010 Feb 9;55(6):587-97
pubmed: 20152563
J Cell Mol Med. 2021 Nov;25(22):10736-10746
pubmed: 34697898
N Engl J Med. 2006 Jan 12;354(2):151-7
pubmed: 16407510
Cell. 2020 Aug 6;182(3):545-562.e23
pubmed: 32621799
Circulation. 2020 Sep 29;142(13):1249-1260
pubmed: 32791857
Cardiology. 2021;146(6):763-771
pubmed: 34469894
Circ Arrhythm Electrophysiol. 2015 Jun;8(3):625-32
pubmed: 25829163
Eur Heart J. 2012 May;33(10):1250-6
pubmed: 21828061
J Cardiovasc Electrophysiol. 2007 Mar;18(3):342-7
pubmed: 17284289
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Am J Cardiol. 2015 Oct 15;116(8):1245-51
pubmed: 26310507
Eur Heart J. 2015 Apr 7;36(14):847-55
pubmed: 25616645
Eur Heart J. 2010 Apr;31(7):806-14
pubmed: 20172912
J Electrocardiol. 2018 Sep - Oct;51(5):837-843
pubmed: 30177324
Prog Lipid Res. 1991;30(2-3):205-18
pubmed: 1823939
J Cardiovasc Electrophysiol. 2013 May;24(5):562-9
pubmed: 23350853
Heart. 2011 Apr;97(7):530-9
pubmed: 20930047
BMC Med Genet. 2018 Aug 21;19(1):148
pubmed: 30129429
World J Cardiol. 2014 Dec 26;6(12):1234-44
pubmed: 25548613
Lancet. 2009 Apr 11;373(9671):1289-300
pubmed: 19362677
Circulation. 2005 Jul 5;112(1):54-9
pubmed: 15998695
Circ Genom Precis Med. 2019 Feb;12(2):e002460
pubmed: 30681346
J Med Genet. 2022 Sep;59(9):858-864
pubmed: 34400560
Cardiovasc Pathol. 2004 Jul-Aug;13(4):185-94
pubmed: 15210133
Cardiology. 2009;113(1):28-34
pubmed: 18957847
Nat Rev Cardiol. 2021 Nov;18(11):774-784
pubmed: 34031597
Nat Med. 2013 Feb;19(2):193-201
pubmed: 23314057
Circ Genom Precis Med. 2021 Jun;14(3):e003273
pubmed: 33831308
Front Genet. 2022 Feb 22;13:743472
pubmed: 35273634
Clin Exp Dermatol. 2021 Jul;46(5):987-989
pubmed: 33656776
Circ Cardiovasc Genet. 2013 Aug;6(4):327-36
pubmed: 23863954
Dis Model Mech. 2017 Jul 1;10(7):823-835
pubmed: 28679668
Heart. 2022 Jan;108(2):90-97
pubmed: 33990412
Genes (Basel). 2021 Jan 19;12(1):
pubmed: 33478057
EMBO Mol Med. 2021 Sep 7;13(9):e14365
pubmed: 34337880
Cardiology. 2017;137(2):78-82
pubmed: 28171858
Circ Cardiovasc Genet. 2015 Jun;8(3):437-46
pubmed: 25820315
Nat Clin Pract Cardiovasc Med. 2007 Feb;4(2):110-6
pubmed: 17245405
Expert Rev Med Devices. 2017 Aug;14(8):609-619
pubmed: 28678556
J Pediatr Genet. 2019 Jun;8(2):69-72
pubmed: 31061749
Front Physiol. 2020 Jun 24;11:604
pubmed: 32670081
Genet Med. 2022 Jul;24(7):1407-1414
pubmed: 35802134
Atherosclerosis. 2009 Sep;206(1):17-30
pubmed: 19200547