메뉴 건너뛰기




Volumn 10, Issue 2, 2017, Pages

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients

Author keywords

cardiomyopathy, hypertrophic; filamin C; genetics, diagnostics; genetics, human; next generation sequencing

Indexed keywords

ACTC1 PROTEIN; ALPHA TROPOMYOSIN; BINDING PROTEIN; FILAMIN; FILAMIN C; MYL2 PROTEIN; MYL3 PROTEIN; MYOSIN BINDING PROTEIN C3; MYOSIN HEAVY CHAIN BETA; MYOSIN HEAVY CHAIN BETA7; TNNC1 PROTEIN; TNNI3 PROTEIN; TNNT2 PROTEIN; UNCLASSIFIED DRUG; FLNC PROTEIN, HUMAN;

EID: 85018726104     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.116.001584     Document Type: Article
Times cited : (64)

References (37)
  • 1
    • 84872551624 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy
    • Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet. 2013;381:242-255. doi: 10.1016/S0140-6736(12)60397-3.
    • (2013) Lancet. , vol.381 , pp. 242-255
    • Maron, B.J.1    Maron, M.S.2
  • 3
    • 84911925125 scopus 로고    scopus 로고
    • Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing
    • Gómez J, Reguero JR, Morís C, Martín M, Alvarez V, Alonso B, et al. Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. Circ J. 2014;78:2963-2971.
    • (2014) Circ J. , vol.78 , pp. 2963-2971
    • Gómez, J.1    Reguero, J.R.2    Morís, C.3    Martín, M.4    Alvarez, V.5    Alonso, B.6
  • 5
    • 84957940404 scopus 로고    scopus 로고
    • Mutations in FLNC are associated with familial restrictive cardiomyopathy
    • FORGE Canada Consortium
    • Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, et al; FORGE Canada Consortium. Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum Mutat. 2016;37:269-279. doi: 10.1002/humu.22942.
    • (2016) Hum Mutat. , vol.37 , pp. 269-279
    • Brodehl, A.1    Ferrier, R.A.2    Hamilton, S.J.3    Greenway, S.C.4    Brundler, M.A.5    Yu, W.6
  • 7
    • 7944237936 scopus 로고    scopus 로고
    • The many faces of filamin: A versatile molecular scaffold for cell motility and signalling
    • Feng Y, Walsh CA. The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nat Cell Biol. 2004;6:1034-1038. doi: 10.1038/ncb1104-1034.
    • (2004) Nat Cell Biol. , vol.6 , pp. 1034-1038
    • Feng, Y.1    Walsh, C.A.2
  • 9
    • 36749069412 scopus 로고    scopus 로고
    • Clinical and morphological phenotype of the filamin myopathy: A study of 31 German patients
    • Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, et al. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain. 2007;130(pt 12):3250-3264. doi: 10.1093/brain/awm271.
    • (2007) Brain. , vol.130 , pp. 3250-3264
    • Kley, R.A.1    Hellenbroich, Y.2    Van Der Ven, P.F.3    Fürst, D.O.4    Huebner, A.5    Bruchertseifer, V.6
  • 10
    • 67349203570 scopus 로고    scopus 로고
    • In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
    • Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, van Landeghem F, et al. In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet. 2009;17:656-663. doi: 10.1038/ejhg.2008.226.
    • (2009) Eur J Hum Genet. , vol.17 , pp. 656-663
    • Shatunov, A.1    Olivé, M.2    Odgerel, Z.3    Stadelmann-Nessler, C.4    Irlbacher, K.5    Van Landeghem, F.6
  • 11
    • 79958825364 scopus 로고    scopus 로고
    • Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy
    • Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, et al. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet. 2011;88:729-740. doi: 10.1016/j. ajhg.2011.04.021.
    • (2011) Am J Hum Genet. , vol.88 , pp. 729-740
    • Duff, R.M.1    Tay, V.2    Hackman, P.3    Ravenscroft, G.4    McLean, C.5    Kennedy, P.6
  • 13
    • 84906653227 scopus 로고    scopus 로고
    • A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD)
    • Hypertrophic Cardiomyopathy Outcomes Investigators
    • O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, et al.; Hypertrophic Cardiomyopathy Outcomes Investigators. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J. 2014;35:2010-2020. doi: 10.1093/eurheartj/eht439.
    • (2014) Eur Heart J. , vol.35 , pp. 2010-2020
    • O'Mahony, C.1    Jichi, F.2    Pavlou, M.3    Monserrat, L.4    Anastasakis, A.5    Rapezzi, C.6
  • 14
    • 84961195430 scopus 로고    scopus 로고
    • KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort
    • Riobello C, Gómez J, Gil-Peña H, Tranche S, Reguero JR, de la Hera JM, et al. KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort. Mol Cell Endocrinol. 2016;427:86-91. doi: 10.1016/j.mce.2016.03.007.
    • (2016) Mol Cell Endocrinol. , vol.427 , pp. 86-91
    • Riobello, C.1    Gómez, J.2    Gil-Peña, H.3    Tranche, S.4    Reguero, J.R.5    De La Hera, J.M.6
  • 15
    • 84907304170 scopus 로고    scopus 로고
    • Effect of the FTO rs9930506 polymorphism on the main comorbidities of the cardiorenal metabolic syndrome in an elderly Spanish cohort
    • Coto E, Tavira B, Gómez J, Tranche S, Corte CD. Effect of the FTO rs9930506 polymorphism on the main comorbidities of the cardiorenal metabolic syndrome in an elderly Spanish cohort. Cardiorenal Med. 2014;4:82-87. doi: 10.1159/000361054.
    • (2014) Cardiorenal Med. , vol.4 , pp. 82-87
    • Coto, E.1    Tavira, B.2    Gómez, J.3    Tranche, S.4    Corte, C.D.5
  • 16
    • 84896708369 scopus 로고    scopus 로고
    • Non optical semiconductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples
    • Gómez J, Reguero JR, Morís C, Alvarez V, Coto E. Non optical semiconductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples. J Cardiovasc Transl Res. 2014;7:133-137. doi: 10.1007/s12265-013-9516-6.
    • (2014) J Cardiovasc Transl Res. , vol.7 , pp. 133-137
    • Gómez, J.1    Reguero, J.R.2    Morís, C.3    Alvarez, V.4    Coto, E.5
  • 18
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073-1081. doi: 10.1038/nprot.2009.86.
    • (2009) Nat Protoc. , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 19
    • 79953715693 scopus 로고    scopus 로고
    • Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
    • González-Pérez A, López-Bigas N. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet. 2011;88:440-449. doi: 10.1016/j.ajhg.2011.03.004.
    • (2011) Am J Hum Genet. , vol.88 , pp. 440-449
    • González-Pérez, A.1    López-Bigas, N.2
  • 20
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46:310-315. doi: 10.1038/ng.2892.
    • (2014) Nat Genet. , vol.46 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 21
    • 84928209346 scopus 로고    scopus 로고
    • Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • ACMG Laboratory Quality Assurance Committee
    • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-424. doi: 10.1038/gim.2015.30.
    • (2015) Genet Med. , vol.17 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3    Bick, D.4    Das, S.5    Gastier-Foster, J.6
  • 22
    • 7044237350 scopus 로고    scopus 로고
    • In silico prediction of the deleterious effect of a mutation: Proceed with caution in clinical genetics
    • Tchernitchko D, Goossens M, Wajcman H. In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics. Clin Chem. 2004;50:1974-1978. doi: 10.1373/clinchem.2004.036053.
    • (2004) Clin Chem. , vol.50 , pp. 1974-1978
    • Tchernitchko, D.1    Goossens, M.2    Wajcman, H.3
  • 23
    • 84945453282 scopus 로고    scopus 로고
    • Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue
    • Ackerman MJ. Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue. Heart Rhythm. 2015;12:2325-2331. doi: 10.1016/j.hrthm.2015.07.002.
    • (2015) Heart Rhythm. , vol.12 , pp. 2325-2331
    • Ackerman, M.J.1
  • 24
    • 84949666389 scopus 로고    scopus 로고
    • The ups and downs of genetic diagnosis of hypertrophic cardiomyopathy
    • Gomez J, Reguero JR, Coto E. The ups and downs of genetic diagnosis of hypertrophic cardiomyopathy. Rev Esp Cardiol (Engl Ed). 2016;69:61-68.
    • (2016) Rev Esp Cardiol (Engl Ed). , vol.69 , pp. 61-68
    • Gomez, J.1    Reguero, J.R.2    Coto, E.3
  • 25
    • 84882453618 scopus 로고    scopus 로고
    • New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants
    • Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, et al. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. Eur J Hum Genet. 2013;21:918-928. doi: 10.1038/ejhg.2012.283.
    • (2013) Eur J Hum Genet. , vol.21 , pp. 918-928
    • Andreasen, C.1    Nielsen, J.B.2    Refsgaard, L.3    Holst, A.G.4    Christensen, A.H.5    Andreasen, L.6
  • 27
    • 84878823562 scopus 로고    scopus 로고
    • Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
    • Uk10k Consortium
    • Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, et al; Uk10k Consortium. Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet. 2013;50:228-239. doi: 10.1136/jmedgenet-2012-101270.
    • (2013) J Med Genet. , vol.50 , pp. 228-239
    • Lopes, L.R.1    Zekavati, A.2    Syrris, P.3    Hubank, M.4    Giambartolomei, C.5    Dalageorgou, C.6
  • 28
    • 84866088969 scopus 로고    scopus 로고
    • Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts
    • Bick AG, Flannick J, Ito K, Cheng S, Vasan RS, Parfenov MG, et al. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am J Hum Genet. 2012;91:513-519. doi: 10.1016/j. ajhg.2012.07.017.
    • (2012) Am J Hum Genet. , vol.91 , pp. 513-519
    • Bick, A.G.1    Flannick, J.2    Ito, K.3    Cheng, S.4    Vasan, R.S.5    Parfenov, M.G.6
  • 29
    • 84886296206 scopus 로고    scopus 로고
    • The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain)
    • Reguero JR, Gómez J, Martín M, Flórez JP, Morís C, Iglesias S, et al. The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain). Int J Cardiol. 2013;168:4555-4556. doi: 10.1016/j.ijcard.2013.06.085.
    • (2013) J Cardiol. , vol.168 , pp. 4555-4556
    • Reguero, J.R.1    Gómez, J.2    Martín, M.3    Flórez, J.P.4    Morís, C.5    Iglesias, S.6
  • 30
    • 4544374719 scopus 로고    scopus 로고
    • Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)
    • Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004;75:703-708. doi: 10.1086/424760.
    • (2004) Am J Hum Genet. , vol.75 , pp. 703-708
    • Meredith, C.1    Herrmann, R.2    Parry, C.3    Liyanage, K.4    Dye, D.E.5    Durling, H.J.6
  • 31
    • 84875175486 scopus 로고    scopus 로고
    • When lamins go bad: Nuclear structure and disease
    • Schreiber KH, Kennedy BK. When lamins go bad: nuclear structure and disease. Cell. 2013;152:1365-1375. doi: 10.1016/j.cell.2013.02.015.
    • (2013) Cell. , vol.152 , pp. 1365-1375
    • Schreiber, K.H.1    Kennedy, B.K.2
  • 32
    • 84876287607 scopus 로고    scopus 로고
    • 'State-of-The-heart' of cardiac laminopathies
    • Cattin ME, Muchir A, Bonne G. 'State-of-The-heart' of cardiac laminopathies. Curr Opin Cardiol. 2013;28:297-304. doi: 10.1097/HCO.0b013e32835f0c79.
    • (2013) Curr Opin Cardiol. , vol.28 , pp. 297-304
    • Cattin, M.E.1    Muchir, A.2    Bonne, G.3
  • 34
    • 84864004251 scopus 로고    scopus 로고
    • Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy
    • Friedrich FW, Wilding BR, Reischmann S, Crocini C, Lang P, Charron P, et al. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. Hum Mol Genet. 2012;21:3237-3254. doi: 10.1093/hmg/dds157.
    • (2012) Hum Mol Genet. , vol.21 , pp. 3237-3254
    • Friedrich, F.W.1    Wilding, B.R.2    Reischmann, S.3    Crocini, C.4    Lang, P.5    Charron, P.6
  • 35
    • 84892375702 scopus 로고    scopus 로고
    • Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-A-half LIM domain 1 gene
    • Hartmannova H, Kubanek M, Sramko M, Piherova L, Noskova L, Hodanova K, et al. Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-A-half LIM domain 1 gene. Circ Cardiovasc Genet. 2013;6:543-551. doi: 10.1161/CIRCGENETICS.113.000245.
    • (2013) Circ Cardiovasc Genet. , vol.6 , pp. 543-551
    • Hartmannova, H.1    Kubanek, M.2    Sramko, M.3    Piherova, L.4    Noskova, L.5    Hodanova, K.6
  • 37
    • 84958581407 scopus 로고    scopus 로고
    • Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation
    • Inherited Cardiac Diseases Program of the Spanish Cardiovascular Research Network (Red Investigación Cardiovascular)
    • Cuenca S, Ruiz-Cano MJ, Gimeno-Blanes JR, Jurado A, Salas C, Gomez-Diaz I, et al; Inherited Cardiac Diseases Program of the Spanish Cardiovascular Research Network (Red Investigación Cardiovascular). Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. J Heart Lung Transplant. 2016;35:625-635. doi: 10.1016/j.healun.2015.12.014.
    • (2016) J Heart Lung Transplant. , vol.35 , pp. 625-635
    • Cuenca, S.1    Ruiz-Cano, M.J.2    Gimeno-Blanes, J.R.3    Jurado, A.4    Salas, C.5    Gomez-Diaz, I.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.