2009
DOI: 10.1016/j.jacc.2009.05.038
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Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

Abstract: Objectives We sought to identify a novel gene for dilated cardiomyopathy (DCM). Background DCM is a heritable, genetically heterogeneous disorder that remains idiopathic in a majority of patients. Familial cases provide an opportunity to discover unsuspected molecular bases of DCM, enabling preclinical risk detection. Methods Two large families with autosomal dominant DCM were studied. Genome-wide linkage analysis was used to identify a disease locus, followed by fine mapping and positional candidate gene … Show more

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Cited by 315 publications
(359 citation statements)
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“…To date, only mutations in the splicing factor RNA-binding motif protein 20 (RBM20) have been causally linked to heart disease. [76][77][78] The lack of splicing factors in the list of heart disease-causing genes could have multiple explanations. It could be that mutations in splicing factors are severe and embryonically lethal.…”
Section: Splice Factors In the Diseased Heartmentioning
confidence: 99%
See 1 more Smart Citation
“…To date, only mutations in the splicing factor RNA-binding motif protein 20 (RBM20) have been causally linked to heart disease. [76][77][78] The lack of splicing factors in the list of heart disease-causing genes could have multiple explanations. It could be that mutations in splicing factors are severe and embryonically lethal.…”
Section: Splice Factors In the Diseased Heartmentioning
confidence: 99%
“…Nevertheless, in 2009, Brauch et al 76 described mutations in RBM20 to be causal for familial DCM. Ever since, mutations in RBM20 have been found in multiple cohorts, being responsible for 3% to 5% of all familial DCM cases.…”
Section: Splice Factors In the Diseased Heartmentioning
confidence: 99%
“…Z-disk proteins), nuclear envelope, and sarcolemma. In addition to these structural elements, mutations have also been identified in genes important for calcium cycling (PLN 5 ), RNA splicing (RBM20 19 ) and protein trafficking (BAG3 18 ). A comprehensive review of confirmed and putative disease genes has been described in several recent publications; 17,20 an abbreviated list of disease genes is provided on table 1.…”
Section: Dcm Disease Genesmentioning
confidence: 99%
“…67,68 Recently, mutations in RBM20 gene have been shown to be associated with human dilated cardiomyopathy (DCM). 69,70 Deep sequencing of the cardiac transcriptome revealed aberrant splicing of the titin gene (TTN). 71 The detected aberrant TTN transcript was previously identified to be due to a loss-of-function mutation in RBM20 gene.…”
mentioning
confidence: 99%
“…71 The detected aberrant TTN transcript was previously identified to be due to a loss-of-function mutation in RBM20 gene. 69,70 Subsequent analysis revealed actual ciselements on TTN that are recognized by the splicing-suppressive RBM20. 72 Transcriptome-wide RBM20-binding sites in heart were recently reported using photoactivatable ribonucleoside-enhanced crosslinking and immunoprecipitation (PAR-CLIP) followed by highthroughput sequencing of RNA.…”
mentioning
confidence: 99%