메뉴 건너뛰기




Volumn 55, Issue 9, 2014, Pages 5629-5635

Mutations in the zinc finger protein gene, Znf469, Contribute to the pathogenesis of keratoconus

Author keywords

Genetics; Keratoconus; ZNF469

Indexed keywords

ZINC FINGER PROTEIN; TRANSCRIPTION FACTOR; ZNF469 PROTEIN, HUMAN;

EID: 84908092647     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-14532     Document Type: Article
Times cited : (53)

References (39)
  • 2
    • 84858444241 scopus 로고    scopus 로고
    • Trends in the distribution of donor corneal tissue and indications for corneal transplantation: The New Zealand National Eye Bank Study 2000-2009
    • Cunningham WJ, Brookes NH, Twohill HC, et al. Trends in the distribution of donor corneal tissue and indications for corneal transplantation: the New Zealand National Eye Bank Study 2000-2009. Clin Experiment Ophthalmol. 2012;40:141–147.
    • (2012) Clin Experiment Ophthalmol , vol.40 , pp. 141-147
    • Cunningham, W.J.1    Brookes, N.H.2    Twohill, H.C.3
  • 3
    • 16244386491 scopus 로고    scopus 로고
    • The indications and outcome of paediatric corneal transplantation in New Zealand: 1991-2003
    • Patel HY, Ormonde S, Brookes NH, Moffatt LS, McGhee CN. The indications and outcome of paediatric corneal transplantation in New Zealand: 1991-2003. Br J Ophthalmol. 2005;89: 404–408.
    • (2005) Br J Ophthalmol , vol.89 , pp. 404-408
    • Patel, H.Y.1    Ormonde, S.2    Brookes, N.H.3    Moffatt, L.S.4    McGhee, C.N.5
  • 4
    • 0034900753 scopus 로고    scopus 로고
    • Nineteen years of penetrating keratoplasty in the Hotel-Dieu Hospital in Paris
    • Legeais JM, Parc C, d’Hermies F, Pouliquen Y, Renard G. Nineteen years of penetrating keratoplasty in the Hotel-Dieu Hospital in Paris. Cornea. 2001;20:603–606.
    • (2001) Cornea , vol.20 , pp. 603-606
    • Legeais, J.M.1    Parc, C.2    D’hermies, F.3    Pouliquen, Y.4    Renard, G.5
  • 5
    • 0036186980 scopus 로고    scopus 로고
    • Indications for penetrating keratoplasty and associated procedures, 1996- 2000
    • Cosar CB, Sridhar MS, Cohen E., et al. Indications for penetrating keratoplasty and associated procedures, 1996- 2000. Cornea. 2002;21:148–151.
    • (2002) Cornea , vol.21 , pp. 148-151
    • Cosar, C.B.1    Sridhar, M.S.2    Cohen, E.3
  • 6
    • 0033759339 scopus 로고    scopus 로고
    • Trends in the indications for penetrating keratoplasty in the midwestern United States
    • Dobbins KR, Price FW Jr, Whitson WE. Trends in the indications for penetrating keratoplasty in the midwestern United States. Cornea. 2000;19:813–816.
    • (2000) Cornea , vol.19 , pp. 813-816
    • Dobbins, K.R.1    Price, F.W.2    Whitson, W.E.3
  • 7
    • 79960587046 scopus 로고    scopus 로고
    • Computerized corneal tomography and associated features in a large New Zealand keratoconic population
    • Jordan CA, Zamri A, Wheeldon C, Patel DV, Johnson R, McGhee CN. Computerized corneal tomography and associated features in a large New Zealand keratoconic population. J Cataract Refract Surg. 2011;37:1493–1501.
    • (2011) J Cataract Refract Surg , vol.37 , pp. 1493-1501
    • Jordan, C.A.1    Zamri, A.2    Wheeldon, C.3    Patel, D.V.4    Johnson, R.5    McGhee, C.N.6
  • 8
    • 34147164934 scopus 로고    scopus 로고
    • Topographic indications of emerging keratoconus in teenage New Zealanders
    • Owens H, Gamble GD, Bjornholdt MC, Boyce NK, Keung L. Topographic indications of emerging keratoconus in teenage New Zealanders. Cornea. 2007;26:312–328.
    • (2007) Cornea , vol.26 , pp. 312-328
    • Owens, H.1    Gamble, G.D.2    Bjornholdt, M.C.3    Boyce, N.K.4    Keung, L.5
  • 9
    • 0034726692 scopus 로고    scopus 로고
    • Genetic epidemiological study of keratoconus: Evidence for major gene determination
    • Wang Y, Rabinowitz YS, Rotter JI, Yang H. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet. 2000;93:403–409.
    • (2000) Am J Med Genet , vol.93 , pp. 403-409
    • Wang, Y.1    Rabinowitz, Y.S.2    Rotter, J.I.3    Yang, H.4
  • 10
    • 0036784886 scopus 로고    scopus 로고
    • A locus for autosomal dominant keratoconus: Linkage to 16q22.3-q23.1 in Finnish families
    • Tyynismaa H, Sistonen P, Tuupanen S, et al. A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. Invest Ophthalmol Vis Sci. 2002;43:3160–3164.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 3160-3164
    • Tyynismaa, H.1    Sistonen, P.2    Tuupanen, S.3
  • 11
    • 0036590069 scopus 로고    scopus 로고
    • Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia
    • Fullerton J, Paprocki P, Foote S, Mackey DA, Williamson R, Forrest S. Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia. Hum Genet. 2002;110:462–470.
    • (2002) Hum Genet , vol.110 , pp. 462-470
    • Fullerton, J.1    Paprocki, P.2    Foote, S.3    Mackey, D.A.4    Williamson, R.5    Forrest, S.6
  • 12
    • 0025336429 scopus 로고
    • Syndrome of brittle cornea, blue sclera, and joint hyperextensibility
    • Zlotogora J, BenEzra D, Cohen T, Cohen E. Syndrome of brittle cornea, blue sclera, and joint hyperextensibility. Am J Med Genet. 1990;36:269–272.
    • (1990) Am J Med Genet , vol.36 , pp. 269-272
    • Zlotogora, J.1    Benezra, D.2    Cohen, T.3    Cohen, E.4
  • 13
    • 0014314549 scopus 로고
    • Brittle cornea. A familial trait associated with blue sclera
    • Stein R, Lazar M, Adam A. Brittle cornea. A familial trait associated with blue sclera. Am J Ophthalmol. 1968;66:67–69.
    • (1968) Am J Ophthalmol , vol.66 , pp. 67-69
    • Stein, R.1    Lazar, M.2    Adam, A.3
  • 15
    • 0018824171 scopus 로고
    • Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome)
    • Ticho U, Ivry M, Merin S. Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). Br J Ophthalmol. 1980;64:175–177.
    • (1980) Br J Ophthalmol , vol.64 , pp. 175-177
    • Ticho, U.1    Ivry, M.2    Merin, S.3
  • 16
    • 42749097003 scopus 로고    scopus 로고
    • Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome
    • Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. Am J Hum Genet. 2008;82:1217–1222.
    • (2008) Am J Hum Genet , vol.82 , pp. 1217-1222
    • Abu, A.1    Frydman, M.2    Marek, D.3    Pras, E.4    Nir, U.5    Reznik-Wolf, H.6
  • 17
    • 84868205877 scopus 로고    scopus 로고
    • Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype
    • Al-Owain M, Al-Dosari MS, Sunker A, Shuaib T, Alkuraya FS. Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype. Gene. 2012;511:447–450.
    • (2012) Gene , vol.511 , pp. 447-450
    • Al-Owain, M.1    Al-Dosari, M.S.2    Sunker, A.3    Shuaib, T.4    Alkuraya, F.S.5
  • 18
    • 75749119007 scopus 로고    scopus 로고
    • Brittle cornea syndrome associated with a missense mutation in the zincfinger 469 gene
    • Christensen AE, Knappskog PM, Midtbo M, et al. Brittle cornea syndrome associated with a missense mutation in the zincfinger 469 gene. Invest Ophthalmol Vis Sci. 2009;51:47–52.
    • (2009) Invest Ophthalmol Vis Sci , vol.51 , pp. 47-52
    • Christensen, A.E.1    Knappskog, P.M.2    Midtbo, M.3
  • 19
    • 84867631878 scopus 로고    scopus 로고
    • Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation
    • Khan AO, Aldahmesh MA, Alkuraya FS. Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation. Ophthalmic Genet. 2012;33:257–259.
    • (2012) Ophthalmic Genet , vol.33 , pp. 257-259
    • Khan, A.O.1    Aldahmesh, M.A.2    Alkuraya, F.S.3
  • 20
    • 77958004303 scopus 로고    scopus 로고
    • Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X)
    • Khan AO, Aldahmesh MA, Mohamed JN, Alkuraya FS. Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). Arch Ophthalmol. 2010;128:1376–1379.
    • (2010) Arch Ophthalmol , vol.128 , pp. 1376-1379
    • Khan, A.O.1    Aldahmesh, M.A.2    Mohamed, J.N.3    Alkuraya, F.S.4
  • 21
    • 84855965055 scopus 로고    scopus 로고
    • A novel mutation in PRDM5 in brittle cornea syndrome
    • Aldahmesh M, Mohamed J, Alkuraya F. A novel mutation in PRDM5 in brittle cornea syndrome. Clin Genet. 2011;81:198–199.
    • (2011) Clin Genet , vol.81 , pp. 198-199
    • Aldahmesh, M.1    Mohamed, J.2    Alkuraya, F.3
  • 22
    • 79958826990 scopus 로고    scopus 로고
    • Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance
    • Burkitt EM, Wright HL, Spencer Daly SB, et al. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet. 2011;88:767–777.
    • (2011) Am J Hum Genet , vol.88 , pp. 767-777
    • Burkitt, E.M.1    Wright, H.L.2    Spencer Daly, S.B.3
  • 23
    • 84867571615 scopus 로고    scopus 로고
    • Population-based metaanalysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness
    • Hoehn R, Zeller T, Verhoeven VJ, et al. Population-based metaanalysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. Hum Genet. 2012;131:1783–1793.
    • (2012) Hum Genet , vol.131 , pp. 1783-1793
    • Hoehn, R.1    Zeller, T.2    Verhoeven, V.J.3
  • 24
    • 77953226403 scopus 로고    scopus 로고
    • Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness
    • Lu Y, Dimasi DP, Hysi PG, et al. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet. 2010;6:e1000947.
    • (2010) PLoS Genet , vol.6 , pp. e1000947
    • Lu, Y.1    Dimasi, D.P.2    Hysi, P.G.3
  • 25
    • 84863746476 scopus 로고    scopus 로고
    • Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia
    • Ulmer M, Li J, Yaspan BL, et al. Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Invest Ophthalmol Vis Sci. 2012;53:4468–4474.
    • (2012) Invest Ophthalmol Vis Sci , vol.53 , pp. 4468-4474
    • Ulmer, M.1    Li, J.2    Yaspan, B.L.3
  • 26
    • 77957884591 scopus 로고    scopus 로고
    • New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8
    • Vitart V, Bencic G, Hayward C, et al. New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Hum Mol Genet. 2010;19:4304–4311.
    • (2010) Hum Mol Genet , vol.19 , pp. 4304-4311
    • Vitart, V.1    Bencic, G.2    Hayward, C.3
  • 27
    • 78751693747 scopus 로고    scopus 로고
    • Collagen-related genes influence the glaucoma risk factor, central corneal thickness
    • Vithana EN, Aung T, Khor CC, et al. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet. 2010;20:649–658.
    • (2010) Hum Mol Genet , vol.20 , pp. 649-658
    • Vithana, E.N.1    Aung, T.2    Khor, C.C.3
  • 28
    • 84947899509 scopus 로고    scopus 로고
    • Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
    • Lu Y, Vitart V, Burdon KP, et al. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet. 2013;45:155–163.
    • (2013) Nat Genet , vol.45 , pp. 155-163
    • Lu, Y.1    Vitart, V.2    Burdon, K.P.3
  • 29
    • 84877921331 scopus 로고    scopus 로고
    • Insights into keratoconus from a genetic perspective
    • Burdon KP, Vincent AL. Insights into keratoconus from a genetic perspective. Clin Exp Optom. 2013;96:146–154.
    • (2013) Clin Exp Optom , vol.96 , pp. 146-154
    • Burdon, K.P.1    Vincent, A.L.2
  • 30
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 31
    • 70350523960 scopus 로고    scopus 로고
    • Role of the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand Maori, Pacific Island, and Caucasian case-control sample sets
    • Hollis-Moffatt JE, Xu X, Dalbeth N, et al. Role of the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand Maori, Pacific Island, and Caucasian case-control sample sets. Arthritis Rheum. 2009;60:3485–3492.
    • (2009) Arthritis Rheum , vol.60 , pp. 3485-3492
    • Hollis-Moffatt, J.E.1    Xu, X.2    Dalbeth, N.3
  • 32
    • 84898546285 scopus 로고    scopus 로고
    • Frequency of CYP2C9 polymorphisms in polynesian people and potential relevance to management of gout with benzbromarone
    • Roberts RL, Wallace MC, Wright DF, et al. Frequency of CYP2C9 polymorphisms in polynesian people and potential relevance to management of gout with benzbromarone. Joint Bone Spine. 2013;81:160–163.
    • (2013) Joint Bone Spine , vol.81 , pp. 160-163
    • Roberts, R.L.1    Wallace, M.C.2    Wright, D.F.3
  • 34
    • 34548098139 scopus 로고    scopus 로고
    • Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study: Methods and findings to date
    • Wagner H, Barr JT, Zadnik K. Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study: methods and findings to date. Cont Lens Anterior Eye. 2007;30:223–232.
    • (2007) Cont Lens Anterior Eye , vol.30 , pp. 223-232
    • Wagner, H.1    Barr, J.T.2    Zadnik, K.3
  • 35
    • 84891372258 scopus 로고    scopus 로고
    • ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
    • Rohrbach M, Spencer HL, Porter LF, et al. ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Mol Genet Metab. 2013;109:289–295.
    • (2013) Mol Genet Metab , vol.109 , pp. 289-295
    • Rohrbach, M.1    Spencer, H.L.2    Porter, L.F.3
  • 36
    • 84870532305 scopus 로고    scopus 로고
    • Variation in corneal hysteresis and central corneal thickness among black, hispanic and white subjects
    • Haseltine SJ, Pae J, Ehrlich JR, Shammas M, Radcliffe NM. Variation in corneal hysteresis and central corneal thickness among black, hispanic and white subjects. Acta Ophthalmol. 2012;90:e626–e631.
    • (2012) Acta Ophthalmol , vol.90 , pp. e626-e631
    • Haseltine, S.J.1    Pae, J.2    Ehrlich, J.R.3    Shammas, M.4    Radcliffe, N.M.5
  • 38
    • 21244502599 scopus 로고    scopus 로고
    • The New Zealand National Eye Bank study 1991-2003: A review of the source and management of corneal tissue
    • Patel HY, Brookes NH, Moffatt L, et al. The New Zealand National Eye Bank study 1991-2003: a review of the source and management of corneal tissue. Cornea. 2005;24:576–582.
    • (2005) Cornea , vol.24 , pp. 576-582
    • Patel, H.Y.1    Brookes, N.H.2    Moffatt, L.3
  • 39
    • 34248201577 scopus 로고    scopus 로고
    • Mapping of a gene causing brittle cornea syndrome in Tunisian Jews to 16q 24
    • Abu A, Frydman M, Marek D, et al. Mapping of a gene causing brittle cornea syndrome in Tunisian Jews to 16q 24. Invest Ophthalmol Vis Sci. 2006;47:5283–5287.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 5283-5287
    • Abu, A.1    Frydman, M.2    Marek, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.