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Functional analysis of DES -p.L398P and RBM20 -p.R636C

Published on May 1, 2019in Genetics in Medicine8.683
· DOI :10.1038/s41436-018-0291-2
Andreas Brodehl10
Estimated H-index: 10
(RUB: Ruhr University Bochum),
Hans Ebbinghaus2
Estimated H-index: 2
(RUB: Ruhr University Bochum)
+ 3 AuthorsHendrik Milting30
Estimated H-index: 30
(RUB: Ruhr University Bochum)
Abstract
  • References (3)
  • Citations (2)
References3
Newest
#1André E. Minoche (Garvan Institute of Medical Research)H-Index: 16
#2Claire Horvat (VCCRI: Victor Chang Cardiac Research Institute)H-Index: 4
Last. Diane Fatkin (VCCRI: Victor Chang Cardiac Research Institute)H-Index: 43
view all 17 authors...
We evaluated genome sequencing (GS) as an alternative to multigene panel sequencing (PS) for genetic testing in dilated cardiomyopathy (DCM). Forty-two patients with familial DCM underwent PS and GS, and detection rates of rare single-nucleotide variants and small insertions/deletions in panel genes were compared. Loss-of-function variants in 406 cardiac-enriched genes were evaluated, and an assessment of structural variation was performed. GS provided broader and more uniform coverage than PS, ...
9 CitationsSource
#1Andreas Brodehl (Libin Cardiovascular Institute of Alberta)H-Index: 10
#2Mareike Dieding (Bielefeld University)H-Index: 7
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
view all 13 authors...
Abstract Background Dilated cardiomyopathy (DCM) could be caused by mutations in more than 40 different genes. However, the pathogenic impact of specific mutations is in most cases unknown complicating the genetic counseling of affected families. Therefore, functional studies could contribute to distinguish pathogenic mutations and benign variants. Here, we present a novel heterozygous DES missense variant (c.407C > T; p.L136P) identified by next generation sequencing in a DCM patient. DES encod...
18 CitationsSource
#1Henrike MaatzH-Index: 14
#2Marvin JensH-Index: 10
Last. Norbert HubnerH-Index: 21
view all 17 authors...
Mutations in the gene encoding the RNA-binding protein RBM20 have been implicated in dilated cardiomyopathy (DCM), a major cause of chronic heart failure, presumably through altering cardiac RNA splicing. Here, we combined transcriptome-wide crosslinking immunoprecipitation (CLIP-seq), RNA-seq, and quantitative proteomics in cell culture and rat and human hearts to examine how RBM20 regulates alternative splicing in the heart. Our analyses revealed the presence of a distinct RBM20 RNA-recognitio...
80 CitationsSource
Cited By2
Newest
Source
#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 10
#2Hans Ebbinghaus (RUB: Ruhr University Bochum)H-Index: 2
Last. Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 30
view all 7 authors...
In the last few decades, many pathogenic or likely pathogenic genetic mutations in over hundred different genes have been described for non-ischemic, genetic cardiomyopathies. However, the functional knowledge about most of these mutations is still limited because the generation of adequate animal models is time-consuming and challenging. Therefore, human induced pluripotent stem cells (iPSCs) carrying specific cardiomyopathy-associated mutations are a promising alternative. Since the original d...
8 CitationsSource
#1André E. Minoche (Garvan Institute of Medical Research)H-Index: 16
#2Claire Horvat (VCCRI: Victor Chang Cardiac Research Institute)H-Index: 4
Last. Diane Fatkin (VCCRI: Victor Chang Cardiac Research Institute)H-Index: 43
view all 17 authors...
Source