ArticleAmerican journal of medical genetics. Part A2022
An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.
Shanshan Gao, Abigail Mumme-Monheit, Suet Nee Chen, Elaine B Spector, Dobromir Slavov, Francisco E Baralle, Michael R Bristow, Luisa Mestroni, Matthew R G Taylor, Familial Cardiomyopathy Registry
Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
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1citing papers in PubMed
0.2field-weighted citation impact, top 50% of its field
1 · What the graph read from it
What it found
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2 · The registry
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3 · Its place in the literature
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1 citing paper in PubMed, 2 citations in OpenAlex.
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5 · Who and what money
Authors and funding
10 authors at 2 institutions in 2 countries.
Shanshan GaoDivison of Cardiology, Cardiovascular Institute, University of Colorado, Aurora, Colorado, USA.ORCID 0000-0003-4194-3630
Abigail Mumme-MonheitDivison of Cardiology, Cardiovascular Institute, University of Colorado, Aurora, Colorado, USA.
Suet Nee ChenDivison of Cardiology, Cardiovascular Institute, University of Colorado, Aurora, Colorado, USA.
Elaine B SpectorDNA Laboratory, University of Colorado at Denver and Health Sciences Center, Aurora, Colorado, USA.
Dobromir SlavovDivison of Cardiology, Cardiovascular Institute, University of Colorado, Aurora, Colorado, USA.
Francisco E BaralleItalian Liver Foundation, Trieste, Italy.
Michael R BristowDivison of Cardiology, Cardiovascular Institute, University of Colorado, Aurora, Colorado, USA.
Luisa MestroniDivison of Cardiology, Cardiovascular Institute, University of Colorado, Aurora, Colorado, USA.
Matthew R G TaylorDivison of Cardiology, Cardiovascular Institute, University of Colorado, Aurora, Colorado, USA.
Familial Cardiomyopathy Registry
University of Colorado Hospital · USFondazione Italiana Fegato · IT
Funding
NIH Prior Approval Process ProfessionalUL1TR002535 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2018 to 2022
$51.1M
Colorado Clinical and Translational Sciences InstituteUL1TR001082 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2013 to 2017
$48.0M
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
Genetics, Mechanisms and Clinical Phenotypes of Arrhythmogenic CardiomyopathyR01HL116906 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI MARCUS, FRANK I, MESTRONI, LUISA · 2013 to 2016
$9.2M
Molecular Epidemiology of Dilated CardiomyopathR01HL069071 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI MESTRONI, LUISA · 2002 to 2005
$2.3M
Whole genome DNA sequencing to identify novel genes in dilated cardiomyopathyR01HL109209 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI TAYLOR, MATTHEW R · 2012 to 2016
$2.1M
Cardiomyocyte phenotype and mechanotransduction in Filamin C gene variants causing arrhythmogenic cardiomyopathyR01HL147064 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI MESTRONI, LUISA, TAYLOR, MATTHEW R · 2020 to 2023
$2.1M
Familial Dilated Cardiomyopathy:Genetic CharacterizationK23HL067915 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI TAYLOR, MATTHEW R · 2002 to 2006
Dilated cardiomyopathy (DCM) is one of the most common cardiac phenotypes caused by mutations of lamin A/C (LMNA) gene in humans. In our study, a cohort of 57 patients who underwent heart transplant for dilated cardiomyopathy was screened for variants in LMNA. We identified a synonymous variant c.936G>A in the last nucleotide of exon 5 of LMNA in a DCM family. Clinically, the LMNA variant carriers presented with severe familial DCM, conduction disease, and high creatine-kinase level. The LMNA c.936G>A variant is novel and has not been reported in current genetic variant databases. Sanger sequencing results showed the presence of LMNA c.936G>A variant in the genomic DNA but not in the cDNA derived from one family member's heart tissue. Real-time quantitative polymerase chain reaction showed significantly lower LMNA mRNA levels in the patient's heart compared to the controls, suggesting that the c.936G>A LMNA variant resulted in reduced mRNA and possibly lower protein expression of LMNA. These findings expand the understanding on the association between synonymous variant of LMNA and the molecular pathogenesis in DCM patients.
Indexed as
Cardiomyopathy, DilatedLamin Type AHeterozygoteHumansMutationPedigreeLamin Type ALMNA protein, humandilated cardiomyopathygenotype phenotypeLMNAsynonymous variant
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report. · full record | OpenQuestion