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@article{Jordan:2021:10.1161/CIRCULATIONAHA.120.053033,
author = {Jordan, E and Peterson, L and Ai, T and Asatryan, B and Bronicki, L and Brown, E and Celeghin, R and Edwards, M and Fan, J and Ingles, J and James, CA and Jarinova, O and Johnson, R and Judge, DP and Lahrouchi, N and Lekanne, Deprez RH and Lumbers, RT and Mazzarotto, F and Medeiros, Domingo A and Miller, RL and Morales, A and Murray, B and Peters, S and Pilichou, K and Protonotarios, A and Semsarian, C and Shah, P and Syrris, P and Thaxton, C and van, Tintelen JP and Walsh, R and Wang, J and Ware, J and Hershberger, RE},
doi = {10.1161/CIRCULATIONAHA.120.053033},
journal = {Circulation},
pages = {7--19},
title = {An evidence-based assessment of genes in dilated cardiomyopathy},
url = {http://dx.doi.org/10.1161/CIRCULATIONAHA.120.053033},
volume = {144},
year = {2021}
}

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TY  - JOUR
AB  - Background: The cardiomyopathies, classically categorized as hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular (ARVC), each have a signature genetic theme. HCM and ARVC are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning more than 10 gene ontologies have been implicated in DCM, representing a complex and diverse genetic architecture. To clarify this, a systematic curation of evidence to establish the relationship of genes with DCM was conducted.Methods: An international Panel with clinical and scientific expertise in DCM genetics evaluated evidence supporting monogenic relationships of genes with idiopathic DCM. The Panel utilized the ClinGen semi-quantitative gene-disease clinical validity classification framework with modifications for DCM genetics to classify genes into categories based on the strength of currently available evidence. Representation of DCM genes on clinically available genetic testing panels was evaluated.Results: Fifty-one genes with human genetic evidence were curated. Twelve genes (23%) from eight gene ontologies were classified as having definitive (BAG3, DES, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNT2, TTN) or strong (DSP) evidence. Seven genes (14%) (ACTC1, ACTN2, JPH2, NEXN, TNNI3, TPM1, VCL) including two additional ontologies were classified as moderate evidence; these genes are likely to emerge as strong or definitive with additional evidence. Of these 19 genes, six were similarly classified for HCM and three for ARVC. Of the remaining 32 genes (63%), 25 (49%) had limited evidence, 4 (8%) were disputed, 2 (4%) had no disease relationship, and 1 (2%) was supported by animal model data only. Of 16 evaluated clinical genetic testing panels, most definitive genes were included, but panels also included numerous genes with minimal human evidence.Conclusions: In the curation of 51 genes, 19 had high evidence (12 definitive/strong; seven m
AU  - Jordan,E
AU  - Peterson,L
AU  - Ai,T
AU  - Asatryan,B
AU  - Bronicki,L
AU  - Brown,E
AU  - Celeghin,R
AU  - Edwards,M
AU  - Fan,J
AU  - Ingles,J
AU  - James,CA
AU  - Jarinova,O
AU  - Johnson,R
AU  - Judge,DP
AU  - Lahrouchi,N
AU  - Lekanne,Deprez RH
AU  - Lumbers,RT
AU  - Mazzarotto,F
AU  - Medeiros,Domingo A
AU  - Miller,RL
AU  - Morales,A
AU  - Murray,B
AU  - Peters,S
AU  - Pilichou,K
AU  - Protonotarios,A
AU  - Semsarian,C
AU  - Shah,P
AU  - Syrris,P
AU  - Thaxton,C
AU  - van,Tintelen JP
AU  - Walsh,R
AU  - Wang,J
AU  - Ware,J
AU  - Hershberger,RE
DO  - 10.1161/CIRCULATIONAHA.120.053033
EP  - 19
PY  - 2021///
SN  - 0009-7322
SP  - 7
TI  - An evidence-based assessment of genes in dilated cardiomyopathy
T2  - Circulation
UR  - http://dx.doi.org/10.1161/CIRCULATIONAHA.120.053033
UR  - http://hdl.handle.net/10044/1/89064
VL  - 144
ER  -

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