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Volumn 5, Issue 10, 2015, Pages

Genes and mutations causing autosomal dominant retinitis pigmentosa

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA; CHROMOSOME 6Q; DIAGNOSTIC VALUE; DOMINANT INHERITANCE; FAMILY HISTORY; GENE FUNCTION; GENE MUTATION; HUMAN; LEBER CONGENITAL AMAUROSIS; LINKAGE ANALYSIS; MACULAR DEGENERATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NIGHT BLINDNESS; PATHOGENICITY; PREVALENCE; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RETINOPATHY; SINGLE NUCLEOTIDE POLYMORPHISM; VITELLIFORM MACULAR DEGENERATION; DOMINANT GENE; GENETIC LINKAGE; GENETICS; MOLECULAR DIAGNOSIS; MUTATION; PEDIGREE; RECESSIVE GENE;

EID: 84943254875     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a017129     Document Type: Article
Times cited : (112)

References (69)
  • 3
  • 13
    • 84877638125 scopus 로고    scopus 로고
    • Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases
    • Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X, Kang X, Pan X, Liu Y, Jiang C, et al. 2013. Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. Invest Ophthalmol Vis Sci 54: 2186-2197.
    • (2013) Invest Ophthalmol Vis Sci , vol.54 , pp. 2186-2197
    • Chen, X.1    Zhao, K.2    Sheng, X.3    Li, Y.4    Gao, X.5    Zhang, X.6    Kang, X.7    Pan, X.8    Liu, Y.9    Jiang, C.10
  • 15
    • 84890801301 scopus 로고    scopus 로고
    • Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases
    • Cremers FP, den Dunnen JT, Ajmal M, Hussain A, Preising MN, Daiger SP, Qamar R. 2014. Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases. Hum Mutat 35: 147-148.
    • (2014) Hum Mutat , vol.35 , pp. 147-148
    • Cremers, F.P.1    den Dunnen, J.T.2    Ajmal, M.3    Hussain, A.4    Preising, M.N.5    Daiger, S.P.6    Qamar, R.7
  • 16
    • 33846957381 scopus 로고    scopus 로고
    • Perspective on genes and mutations causing retinitis pigmentosa
    • Daiger SP, Bowne SJ, Sullivan LS. 2007. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 125: 151-158.
    • (2007) Arch Ophthalmol , vol.125 , pp. 151-158
    • Daiger, S.P.1    Bowne, S.J.2    Sullivan, L.S.3
  • 17
    • 84880161275 scopus 로고    scopus 로고
    • Genes and mutations causing retinitis pigmentosa
    • Daiger SP, Sullivan LS, Bowne SJ. 2013. Genes and mutations causing retinitis pigmentosa. Clin Genet 84: 132-141.
    • (2013) Clin Genet , vol.84 , pp. 132-141
    • Daiger, S.P.1    Sullivan, L.S.2    Bowne, S.J.3
  • 19
    • 0025990215 scopus 로고
    • Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa
    • Dryja TP, Hahn LB, Cowley GS,McGee TL, Berson EL. 1991. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci 88: 9370-9374.
    • (1991) Proc Natl Acad Sci , vol.88 , pp. 9370-9374
    • Dryja, T.P.1    Hahn, L.B.2    Cowley, G.S.3    McGee, T.L.4    Berson, E.L.5
  • 20
    • 0030931136 scopus 로고    scopus 로고
    • Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa
    • Dryja TP, Hahn LB, Kajiwara K, Berson EL. 1997. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci 38: 1972-1982.
    • (1997) Invest Ophthalmol Vis Sci , vol.38 , pp. 1972-1982
    • Dryja, T.P.1    Hahn, L.B.2    Kajiwara, K.3    Berson, E.L.4
  • 21
    • 84893164403 scopus 로고    scopus 로고
    • Increasing the yield in targeted next-generation sequencing by implicating CNVanalysis, non-coding exons and the overall variant load: The example of retinal dystrophies
    • Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, et al. 2013. Increasing the yield in targeted next-generation sequencing by implicating CNVanalysis, non-coding exons and the overall variant load: The example of retinal dystrophies. PLoS ONE 8: e78496.
    • (2013) PLoS ONE , vol.8
    • Eisenberger, T.1    Neuhaus, C.2    Khan, A.O.3    Decker, C.4    Preising, M.N.5    Friedburg, C.6    Bieg, A.7    Gliem, M.8    Charbel Issa, P.9    Holz, F.G.10
  • 23
    • 84927571602 scopus 로고    scopus 로고
    • Retinitis pigmentosa overview
    • (ed. Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K), University of Washington, Seattle
    • Fahim AT, Daiger SP, Weleber RG. 2013. Retinitis pigmentosa overview. In GeneReviews (ed. Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K), University of Washington, Seattle.
    • (2013) GeneReviews
    • Fahim, A.T.1    Daiger, S.P.2    Weleber, R.G.3
  • 24
    • 84891789990 scopus 로고    scopus 로고
    • The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection
    • Fernandez-Suarez XM, Rigden DJ, Galperin MY. 2014. The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection. Nucleic Acids Res 42: D1-D6.
    • (2014) Nucleic Acids Res , vol.42 , pp. D1-D6
    • Fernandez-Suarez, X.M.1    Rigden, D.J.2    Galperin, M.Y.3
  • 26
    • 24344447781 scopus 로고    scopus 로고
    • Outcome measures and their application in clinical trials for retinal degenerative diseases: Outline, review, and perspective
    • Fishman GA, Jacobson SG, Alexander KR, Cideciyan AV, Birch DG, Weleber RG, Hood DC. 2005. Outcome measures and their application in clinical trials for retinal degenerative diseases: Outline, review, and perspective. Retina 25: 772-777.
    • (2005) Retina , vol.25 , pp. 772-777
    • Fishman, G.A.1    Jacobson, S.G.2    Alexander, K.R.3    Cideciyan, A.V.4    Birch, D.G.5    Weleber, R.G.6    Hood, D.C.7
  • 30
    • 0036482801 scopus 로고    scopus 로고
    • Epidemiology of retinitis pigmentosa in Denmark
    • Haim M. 2002. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl 233: 1-34.
    • (2002) Acta Ophthalmol Scand Suppl , vol.233 , pp. 1-34
    • Haim, M.1
  • 32
    • 84870426647 scopus 로고    scopus 로고
    • Biobase Biological Databases
    • HGMD. 2014. Human Gene Mutation Database, http:// www.hgmd.cf.ac.uk/. Biobase Biological Databases.
    • (2014) Human Gene Mutation Database
    • HGMD1
  • 34
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/ RDS and ROM1 loci
    • Kajiwara K, Berson EL, Dryja TP. 1994. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/ RDS and ROM1 loci. Science 264: 1604-1608.
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 35
    • 84862258799 scopus 로고    scopus 로고
    • Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23
    • Kannabiran C, Singh HP, Jalali S. 2012. Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23. Hum Genet 131: 717-723.
    • (2012) Hum Genet , vol.131 , pp. 717-723
    • Kannabiran, C.1    Singh, H.P.2    Jalali, S.3
  • 37
    • 84897023443 scopus 로고    scopus 로고
    • Molecular genetic epidemiology of human diseases: From patterns to predictions
    • Knecht C, Krawczak M. 2014. Molecular genetic epidemiology of human diseases: From patterns to predictions. Hum Genet 133: 425-430.
    • (2014) Hum Genet , vol.133 , pp. 425-430
    • Knecht, C.1    Krawczak, M.2
  • 40
    • 77957687634 scopus 로고    scopus 로고
    • Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa
    • Li S, Xiao X, Wang P, Guo X, Zhang Q. 2010. Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa. Biochem Biophys Res Commun 401: 42-47.
    • (2010) Biochem Biophys Res Commun , vol.401 , pp. 42-47
    • Li, S.1    Xiao, X.2    Wang, P.3    Guo, X.4    Zhang, Q.5
  • 41
    • 84880152075 scopus 로고    scopus 로고
    • Alternative splicing and retinal degeneration
    • Liu MM, Zack DJ. 2013. Alternative splicing and retinal degeneration. Clin Genet 84: 142-149.
    • (2013) Clin Genet , vol.84 , pp. 142-149
    • Liu, M.M.1    Zack, D.J.2
  • 44
    • 0030731399 scopus 로고    scopus 로고
    • Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele
    • McGee TL, Devoto M, Ott J, Berson EL, Dryja TP. 1997. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet 61: 1059-1066.
    • (1997) Am J Hum Genet , vol.61 , pp. 1059-1066
    • McGee, T.L.1    Devoto, M.2    Ott, J.3    Berson, E.L.4    Dryja, T.P.5
  • 45
    • 84891804649 scopus 로고    scopus 로고
    • Database resources of the National Center for Biotechnology Information
    • NCBI. 2014. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res 42: D7- D17.
    • (2014) Nucleic Acids Res , vol.42 , pp. D7-D17
    • NCBI1
  • 50
    • 84872268104 scopus 로고    scopus 로고
    • Stephen P. Daiger, Ph.D., Administrator, The University of Texas Health Science Center at Houston
    • RetNet. 2014. The Retinal Information Network, http:// www.sph.uth.edu/RetNet/. Stephen P. Daiger, Ph.D., Administrator, The University of Texas Health Science Center at Houston.
    • (2014) The Retinal Information Network
    • RetNet1
  • 52
    • 42149139456 scopus 로고    scopus 로고
    • ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
    • Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE. 2008. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. GenetMed 10: 294- 300.
    • (2008) GenetMed , vol.10 , pp. 294-300
    • Richards, C.S.1    Bale, S.2    Bellissimo, D.B.3    Das, S.4    Grody, W.W.5    Hegde, M.R.6    Lyon, E.7    Ward, B.E.8
  • 53
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. 2010. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7: 575-576.
    • (2010) Nat Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 56
    • 79951809636 scopus 로고    scopus 로고
    • Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa
    • Simpson DA, Clark GR, Alexander S, Silvestri G,Willoughby CE. 2011. Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. J Med Genet 48: 145-151.
    • (2011) J Med Genet , vol.48 , pp. 145-151
    • Simpson, D.A.1    Clark, G.R.2    Alexander, S.3    Silvestri, G.4    Willoughby, C.E.5
  • 62
    • 80052143586 scopus 로고    scopus 로고
    • Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
    • Tucker BA, Scheetz TE, Mullins RF, DeLuca AP, Hoffmann JM, Johnston RM, Jacobson SG, Sheffield VC, Stone EM. 2011. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci 108: E569- 576.
    • (2011) Proc Natl Acad Sci , vol.108 , pp. E569-E576
    • Tucker, B.A.1    Scheetz, T.E.2    Mullins, R.F.3    DeLuca, A.P.4    Hoffmann, J.M.5    Johnston, R.M.6    Jacobson, S.G.7    Sheffield, V.C.8    Stone, E.M.9
  • 63
    • 84870674014 scopus 로고    scopus 로고
    • CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance
    • Venturini G, Rose AM, Shah AZ, Bhattacharya SS, Rivolta C. 2012. CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS Genet 8: e1003040.
    • (2012) PLoS Genet , vol.8
    • Venturini, G.1    Rose, A.M.2    Shah, A.Z.3    Bhattacharya, S.S.4    Rivolta, C.5
  • 64
    • 84894431411 scopus 로고    scopus 로고
    • Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: Identification of a novel genotypephenotype correlation and clinical refinements
    • Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, et al. 2013. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: Identification of a novel genotypephenotype correlation and clinical refinements.Hum Genet 133: 331-345.
    • (2013) Hum Genet , vol.133 , pp. 331-345
    • Wang, F.1    Wang, H.2    Tuan, H.F.3    Nguyen, D.H.4    Sun, V.5    Keser, V.6    Bowne, S.J.7    Sullivan, L.S.8    Luo, H.9    Zhao, L.10
  • 66
  • 68
    • 84910111705 scopus 로고    scopus 로고
    • Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing
    • Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, et al. 2014. Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. Hum Genet. doi: 10.1007/s00439- 014-1460-2.
    • (2014) Hum Genet
    • Xu, Y.1    Guan, L.2    Shen, T.3    Zhang, J.4    Xiao, X.5    Jiang, H.6    Li, S.7    Yang, J.8    Jia, X.9    Yin, Y.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.