COMMENTARY

Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?

  • Anna Gaertner ,
  • Andreas Brodehl ,
  • Hendrik Milting
Expand
  • Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany

Published date: 15 Jun 2019

Copyright

2018 The Author(s)

Cite this article

Anna Gaertner , Andreas Brodehl , Hendrik Milting . Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?[J]. Protein & Cell, 2019 , 10(6) : 393 -394 . DOI: 10.1007/s13238-018-0590-z

1
Beqqali A, Bollen IA, Rasmussen TB, van den Hoogenhof MM, van Deutekom HW, Schafer S, Haas J, Meder B, Sørensen KE, van Oort RJ (2016) A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism. Cardiovasc Res 112(1):452–463

DOI

2
Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ, Michels VV, Olson TM (2009) Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol 54(10):930–941

DOI

3
Fu Y,Eisen HJ (2018) Genetics of Dilated Cardiomyopathy. Curr Cardiol Rep 20(11):121

DOI

4
Gao C, Ren S, Lee JH, Qiu J, Chapski DJ, Rau CD, Zhou Y,Abdellatif M, Nakano A, Vondriska TM (2016) RBFox1-mediated RNA splicing regulates cardiac hypertrophy and heart failure. J Clin Invest 126(1):195–206

DOI

5
Guo W, Schafer S, Greaser ML, Radke MH, Liss M, Govindarajan T, Maatz H, Schulz H, Li S, Parrish AM (2012) RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nat Med 18 (5):766–773

DOI

6
Klauke B, Gaertner-Rommel A, Schulz U, zu Kassner A, Knyphausen E, Laser T, Kececioglu D, Paluszkiewicz L, Blanz U, Sandica E (2017) High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. PLoS ONE 12(12):e0189489

DOI

7
LeMasters KE, Blech-Hermoni Y, Stillwagon SJ, Vajda NA, Ladd AN (2012) Loss of muscleblind-like 1 promotes invasive mesenchyme formation in endocardial cushions by stimulating autocrine TGFbeta3. BMC Dev Biol 12:22

DOI

8
Liu J, Kong X, Zhang M, Yang X, Xu X(2018) RNA binding protein 24 deletion disrupts global alternative splicing and causes dilated cardiomyopathy. Protein Cell.https://doi.org/10.1007/s13238-018-0578-8

DOI

9
Ma J, Lu L, Guo W, Ren J, Yang J (2016) Emerging role for RBM20 and its splicing substrates in cardiac function and heart failure. Curr Pharm Des 22(31):4744–4751

DOI

10
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21 (6):577–581

DOI

11
Wei C, Qiu J, Zhou Y, Xue Y, Hu J,Ouyang K,Banerjee I, Zhang C, Chen B, Li H(2015) Repression of the central splicing regulator RBFox2 is functionally linked to pressure overloadinduced heart failure. Cell Rep 10:1521–1533

DOI

12
Wells QS, Becker JR, Su YR, Mosley JD, Weeke P, D’aoust L, Ausborn NL, Ramirez AH, Pfotenhauer JP, Naftilan AJ (2013) Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. Circ Cardiovasc Genet 6(4):317–326

DOI

13
Yang J, Hung LH, Licht T, Kostin S, Looso M, Khrameeva E, Bindereif A, Schneider A, Braun T (2014) RBM24 is a major regulator of muscle-specific alternative splicing. Dev Cell 31 (1):87–99

DOI

Outlines

/