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Volumn 375, Issue 7, 2016, Pages 655-665

Genetic misdiagnoses and the potential for health disparities

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AFRICAN; AFRICAN AMERICAN; AGED; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC ERROR; EUROPEAN AMERICAN; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HEALTH DISPARITY; HUMAN; HUMAN GENOME; HYPERTROPHIC CARDIOMYOPATHY; JPH2 GENE; MIDDLE AGED; MYBPC3 GENE; OBSCN GENE; PRIORITY JOURNAL; SCHOOL CHILD; TNNI3 GENE; TNNT2 GENE; YOUNG ADULT; ASIAN AMERICAN; CAUCASIAN; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; GENOTYPE; HISPANIC; LABORATORY DIAGNOSIS; MUTATION; UNITED STATES;

EID: 84982187833     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMsa1507092     Document Type: Article
Times cited : (561)

References (42)
  • 1
    • 0037070514 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: A systematic review
    • Maron BJ. Hypertrophic cardiomyopathy: A systematic review. JAMA 2002; 287: 1308-20.
    • (2002) JAMA , vol.287 , pp. 1308-1320
    • Maron, B.J.1
  • 2
    • 0029083650 scopus 로고
    • Prevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the CARDIA Study
    • Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the CARDIA Study. Circulation 1995; 92: 785-9.
    • (1995) Circulation , vol.92 , pp. 785-789
    • Maron, B.J.1    Gardin, J.M.2    Flack, J.M.3    Gidding, S.S.4    Kurosaki, T.T.5    Bild, D.E.6
  • 3
    • 84872551624 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy
    • Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet 2013; 381: 242-55.
    • (2013) Lancet , vol.381 , pp. 242-255
    • Maron, B.J.1    Maron, M.S.2
  • 4
    • 84865127014 scopus 로고    scopus 로고
    • Genetics of hypertrophic cardiomyopathy after 20 years: Clinical perspectives
    • Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol 2012; 60: 705-15.
    • (2012) J Am Coll Cardiol , vol.60 , pp. 705-715
    • Maron, B.J.1    Maron, M.S.2    Semsarian, C.3
  • 5
    • 61349177862 scopus 로고    scopus 로고
    • Long- Term effects of enzyme replacement therapy on fabry cardiomyopathy: Evidence for a better outcome with early treatment
    • Weidemann F, Niemann M, Breunig F, et al. Long- Term effects of enzyme replacement therapy on Fabry cardiomyopathy: Evidence for a better outcome with early treatment. Circulation 2009; 119: 524-9.
    • (2009) Circulation , vol.119 , pp. 524-529
    • Weidemann, F.1    Niemann, M.2    Breunig, F.3
  • 6
    • 42149139456 scopus 로고    scopus 로고
    • ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
    • Richards CS, Bale S, Bellissimo DB, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 2008; 10: 294-300.
    • (2008) Genet Med , vol.10 , pp. 294-300
    • Richards, C.S.1    Bale, S.2    Bellissimo, D.B.3
  • 7
    • 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
    • Richards S, Aziz N, Bale S, et al. 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: 405-24.
    • (2015) Genet Med , vol.17 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3
  • 8
    • 84875217898 scopus 로고    scopus 로고
    • Disease- Targeted sequencing: A cornerstone in the clinic
    • Rehm HL. Disease- Targeted sequencing: A cornerstone in the clinic. Nat Rev Genet 2013; 14: 295-300.
    • (2013) Nat Rev Genet , vol.14 , pp. 295-300
    • Rehm, H.L.1
  • 9
    • 84885793006 scopus 로고    scopus 로고
    • A systematic approach to assessing the clinical significance of genetic variants
    • Duzkale H, Shen J, McLaughlin H, et al. A systematic approach to assessing the clinical significance of genetic variants. Clin Genet 2013; 84: 453-63.
    • (2013) Clin Genet , vol.84 , pp. 453-463
    • Duzkale, H.1    Shen, J.2    McLaughlin, H.3
  • 10
    • 84860826709 scopus 로고    scopus 로고
    • Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era
    • Norton N, Robertson PD, Rieder MJ, et al. Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet 2012; 5: 167-74.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 167-174
    • Norton, N.1    Robertson, P.D.2    Rieder, M.J.3
  • 11
    • 84863116742 scopus 로고    scopus 로고
    • A systematic survey of loss-of-function variants in human proteincoding genes
    • MacArthur DG, Balasubramanian S, Frankish A, et al. A systematic survey of loss-of-function variants in human proteincoding genes. Science 2012; 335: 823-8.
    • (2012) Science , vol.335 , pp. 823-828
    • MacArthur, D.G.1    Balasubramanian, S.2    Frankish, A.3
  • 12
    • 84857121123 scopus 로고    scopus 로고
    • NHLBI GO Exome Sequencing Project (ESP)
    • NHLBI GO Exome Sequencing Project (ESP). Exome variant server (http://evs.gs.washington.edu/EVS/).
    • Exome Variant Server
  • 13
    • 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, et al. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy- Associated genetic variants. Eur J Hum Genet 2013; 21: 918-28.
    • (2013) Eur J Hum Genet , vol.21 , pp. 918-928
    • Andreasen, C.1    Nielsen, J.B.2    Refsgaard, L.3
  • 14
    • 77953446523 scopus 로고    scopus 로고
    • The human gene mutation database: 2008 update
    • Stenson PD, Mort M, Ball EV, et al. The Human Gene Mutation Database: 2008 update. Genome Med 2009; 1: 13.
    • (2009) Genome Med , vol.1 , pp. 13
    • Stenson, P.D.1    Mort, M.2    Ball, E.V.3
  • 15
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1, 092 human genomes
    • The 1000 Genomes Project Consortium
    • The 1000 Genomes Project Consortium. An integrated map of genetic variation from 1, 092 human genomes. Nature 2012; 491: 56-65.
    • (2012) Nature , vol.491 , pp. 56-65
  • 16
    • 39749181521 scopus 로고    scopus 로고
    • Worldwide human relationships inferred from genome-wide patterns of variation
    • Li JZ, Absher DM, Tang H, et al. Worldwide human relationships inferred from genome-wide patterns of variation. Science 2008; 319: 1100-4.
    • (2008) Science , vol.319 , pp. 1100-1104
    • Li, J.Z.1    Absher, D.M.2    Tang, H.3
  • 17
    • 84946506206 scopus 로고    scopus 로고
    • Results of clinical genetic testing of 2, 912 probands with hypertrophic cardiomyopathy: Expanded panels offer limited additional sensitivity
    • Alfares AA, Kelly MA, McDermott G, et al. Results of clinical genetic testing of 2, 912 probands with hypertrophic cardiomyopathy: Expanded panels offer limited additional sensitivity. Genet Med 2015; 17: 880-8.
    • (2015) Genet Med , vol.17 , pp. 880-888
    • Alfares, A.A.1    Kelly, M.A.2    McDermott, G.3
  • 18
    • 0035173378 scopus 로고    scopus 로고
    • DbSNP: The NCBI database of genetic variation
    • Sherry ST, Ward MH, Kholodov M, et al. dbSNP: The NCBI database of genetic variation. Nucleic Acids Res 2001; 29: 308- 11.
    • (2001) Nucleic Acids Res , vol.29 , pp. 308-311
    • Sherry, S.T.1    Ward, M.H.2    Kholodov, M.3
  • 19
    • 66049157487 scopus 로고    scopus 로고
    • Signals of recent positive selection in a worldwide sample of human populations
    • Pickrell JK, Coop G, Novembre J, et al. Signals of recent positive selection in a worldwide sample of human populations. Genome Res 2009; 19: 826-37.
    • (2009) Genome Res , vol.19 , pp. 826-837
    • Pickrell, J.K.1    Coop, G.2    Novembre, J.3
  • 20
    • 0030305457 scopus 로고    scopus 로고
    • R: A language for data analysis and graphics
    • Ihaka R, Gentleman R. R: A language for data analysis and graphics. J Comput Graph Stat 1996; 5: 299-314.
    • (1996) J Comput Graph Stat , vol.5 , pp. 299-314
    • Ihaka, R.1    Gentleman, R.2
  • 21
    • 0041866796 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: Low frequency of mutations in the betamyosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients
    • Garcia-Castro M, Reguero JR, Batalla A, et al. Hypertrophic cardiomyopathy: low frequency of mutations in the betamyosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients. Clin Chem 2003; 49: 1279-85.
    • (2003) Clin Chem , vol.49 , pp. 1279-1285
    • Garcia-Castro, M.1    Reguero, J.R.2    Batalla, A.3
  • 22
    • 34548312200 scopus 로고    scopus 로고
    • Structural analysis of obscurin gene in hypertrophic cardiomyopathy
    • Arimura T, Matsumoto Y, Okazaki O, et al. Structural analysis of obscurin gene in hypertrophic cardiomyopathy. Biochem Biophys Res Commun 2007; 362: 281-7.
    • (2007) Biochem Biophys Res Commun , vol.362 , pp. 281-287
    • Arimura, T.1    Matsumoto, Y.2    Okazaki, O.3
  • 23
    • 0037192339 scopus 로고    scopus 로고
    • Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly
    • Niimura H, Patton KK, McKenna WJ, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 2002; 105: 446-51.
    • (2002) Circulation , vol.105 , pp. 446-451
    • Niimura, H.1    Patton, K.K.2    McKenna, W.J.3
  • 24
    • 0037630018 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
    • Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227-32.
    • (2003) Circulation , vol.107 , pp. 2227-2232
    • Richard, P.1    Charron, P.2    Carrier, L.3
  • 25
    • 34249664521 scopus 로고    scopus 로고
    • Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy
    • Matsushita Y, Furukawa T, Kasanuki H, et al. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. J Hum Genet 2007; 52: 543-8.
    • (2007) J Hum Genet , vol.52 , pp. 543-548
    • Matsushita, Y.1    Furukawa, T.2    Kasanuki, H.3
  • 26
    • 84982107258 scopus 로고    scopus 로고
    • Exome Aggregation Consortium (ExAC)
    • Exome Aggregation Consortium (ExAC). ExAC browser (beta). 2016 (http://exac.broadinstitute.org).
    • (2016) ExAC Browser (Beta)
  • 27
    • 79551682679 scopus 로고    scopus 로고
    • Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy
    • Maron BJ, Yeates L, Semsarian C. Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy. Am J Cardiol 2011; 107: 604-8.
    • (2011) Am J Cardiol , vol.107 , pp. 604-608
    • Maron, B.J.1    Yeates, L.2    Semsarian, C.3
  • 28
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002; 359: 211-8.
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3    Ho, N.J.4    Gelbart, T.5
  • 29
    • 84860817223 scopus 로고    scopus 로고
    • Recent explosive human population growth has resulted in an excess of rare genetic variants
    • Keinan A, Clark AG. Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 2012; 336: 740-3.
    • (2012) Science , vol.336 , pp. 740-743
    • Keinan, A.1    Clark, A.G.2
  • 30
    • 0030910022 scopus 로고    scopus 로고
    • The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews
    • Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997; 336: 1401-8.
    • (1997) N Engl J Med , vol.336 , pp. 1401-1408
    • Struewing, J.P.1    Hartge, P.2    Wacholder, S.3
  • 31
    • 79960566302 scopus 로고    scopus 로고
    • New approaches to disease mapping in admixed populations
    • Seldin MF, Pasaniuc B, Price AL. New approaches to disease mapping in admixed populations. Nat Rev Genet 2011; 12: 523-8.
    • (2011) Nat Rev Genet , vol.12 , pp. 523-528
    • Seldin, M.F.1    Pasaniuc, B.2    Price, A.L.3
  • 32
    • 84901449140 scopus 로고    scopus 로고
    • The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
    • Pugh TJ, Kelly MA, Gowrisankar S, et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014; 16: 601-8.
    • (2014) Genet Med , vol.16 , pp. 601-608
    • Pugh, T.J.1    Kelly, M.A.2    Gowrisankar, S.3
  • 33
    • 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, et al. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am J Hum Genet 2012; 91: 513-9.
    • (2012) Am J Hum Genet , vol.91 , pp. 513-519
    • Bick, A.G.1    Flannick, J.2    Ito, K.3
  • 34
    • 42949149810 scopus 로고    scopus 로고
    • Shared genetic causes of cardiac hypertrophy in children and adults
    • Morita H, Rehm HL, Menesses A, et al. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med 2008; 358: 1899-908.
    • (2008) N Engl J Med , vol.358 , pp. 1899-1908
    • Morita, H.1    Rehm, H.L.2    Menesses, A.3
  • 35
    • 9644263985 scopus 로고    scopus 로고
    • Racial differences in genetic effects for complex diseases
    • Ioannidis JPA, Ntzani EE, Trikalinos TA. 'Racial' differences in genetic effects for complex diseases. Nat Genet 2004; 36: 1312-8.
    • (2004) Nat Genet , vol.36 , pp. 1312-1318
    • Ioannidis, J.P.A.1    Ntzani, E.E.2    Trikalinos, T.A.3
  • 36
    • 84891809093 scopus 로고    scopus 로고
    • ClinVar: Public archive of relationships among sequence variation and human phenotype
    • Database issue
    • Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 2014; 42 (Database issue): D980-5.
    • (2014) Nucleic Acids Res , vol.42 , pp. D980-D985
    • Landrum, M.J.1    Lee, J.M.2    Riley, G.R.3
  • 38
    • 84962327933 scopus 로고    scopus 로고
    • Clinical genomics: From pathogenicity claims to quantitative risk estimates
    • Manrai AK, Ioannidis JPA, Kohane IS. Clinical genomics: from pathogenicity claims to quantitative risk estimates. JAMA 2016; 315: 1233-4.
    • (2016) JAMA , vol.315 , pp. 1233-1234
    • Manrai, A.K.1    Ioannidis, J.P.A.2    Kohane, I.S.3
  • 39
    • 84923268294 scopus 로고    scopus 로고
    • Sharing clinical trial data: Maximizing benefits, minimizing risk
    • Lo B. Sharing clinical trial data: maximizing benefits, minimizing risk. JAMA 2015; 313: 793-4.
    • (2015) JAMA , vol.313 , pp. 793-794
    • Lo, B.1
  • 40
    • 84920972916 scopus 로고    scopus 로고
    • Sharing individual patient data from clinical trials
    • Drazen JM. Sharing individual patient data from clinical trials. N Engl J Med 2015; 372: 201-2.
    • (2015) N Engl J Med , vol.372 , pp. 201-202
    • Drazen, J.M.1
  • 41
    • 84893569478 scopus 로고    scopus 로고
    • A novel clinician interface to improve clinician access to up- To-date genetic results
    • Wilcox AR, Neri PM, Volk LA, et al. A novel clinician interface to improve clinician access to up- To-date genetic results. J Am Med Inform Assoc 2014; 21(e1): E117- 21.
    • (2014) J Am Med Inform Assoc , vol.21 , Issue.E1 , pp. e117-e121
    • Wilcox, A.R.1    Neri, P.M.2    Volk, L.A.3
  • 42
    • 84873058219 scopus 로고    scopus 로고
    • Attitudes and practices among internists concerning genetic testing
    • Klitzman R, Chung W, Marder K, et al. Attitudes and practices among internists concerning genetic testing. J Genet Couns 2013; 22: 90-100.
    • (2013) J Genet Couns , vol.22 , pp. 90-100
    • Klitzman, R.1    Chung, W.2    Marder, K.3


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