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

References

[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

[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

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

[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

[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

[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

[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

[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.

[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

[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

[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

[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

[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

RIGHTS & PERMISSIONS

The Author(s)