메뉴 건너뛰기




Volumn 128, Issue 11, 2010, Pages 1473-1479

Nonsyndromic high myopia in a Chinese family mapped to MYP1: Linkage confirmation and phenotypic characterization

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHINESE; CHROMOSOME XQ; CLINICAL ARTICLE; FEMALE; GENE; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIABILITY; HIGH MYOPIA; HUMAN; LINKAGE ANALYSIS; MALE; MULTIGENE FAMILY; MYP1 GENE; NONSYNDROMIC HIGH MYOPIA; OPTIC DISK; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; SEQUENCE ANALYSIS; VISUAL DISORDER; X CHROMOSOME;

EID: 78149471705     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2010.270     Document Type: Article
Times cited : (33)

References (50)
  • 1
    • 33846543688 scopus 로고    scopus 로고
    • High Myopia and Glaucoma Susceptibility. The Beijing Eye Study
    • DOI 10.1016/j.ophtha.2006.06.050, PII S0161642006010591
    • Xu L, Wang Y, Wang S, Wang Y, Jonas JB. High myopia and glaucoma susceptibility the Beijing Eye Study. Ophthalmology. 2007;114(2):216-220. (Pubitemid 46161786)
    • (2007) Ophthalmology , vol.114 , Issue.2 , pp. 216-220
    • Xu, L.1    Wang, Y.2    Wang, S.3    Wang, Y.4    Jonas, J.B.5
  • 2
    • 0037963528 scopus 로고    scopus 로고
    • Myopic choroidal neovascularization: A 10-year follow-up
    • Yoshida T, Ohno-Matsui K, Yasuzumi K, et al. Myopic choroidal neovascularization: a 10-year follow-up. Ophthalmology. 2003;110(7):1297-1305.
    • (2003) Ophthalmology , vol.110 , Issue.7 , pp. 1297-1305
    • Yoshida, T.1    Ohno-Matsui, K.2    Yasuzumi, K.3
  • 3
    • 67349264439 scopus 로고    scopus 로고
    • Gas injection versus vitrectomy with gas for treating retinal detachment owing to macular hole in high myopes
    • e1
    • Li X, Wang W, Tang S, Zhao J. Gas injection versus vitrectomy with gas for treating retinal detachment owing to macular hole in high myopes. Ophthalmology. 2009;116(6):1182-1187, e1.
    • (2009) Ophthalmology , vol.116 , Issue.6 , pp. 1182-1187
    • Li, X.1    Wang, W.2    Tang, S.3    Zhao, J.4
  • 4
    • 54949104328 scopus 로고    scopus 로고
    • Prevalence and causes of low vision and blindness in a rural chinese adult population: The Handan Eye Study
    • Handan Eye Study Group
    • Liang YB, Friedman DS, Wong TY, et al; Handan Eye Study Group. Prevalence and causes of low vision and blindness in a rural chinese adult population: the Handan Eye Study. Ophthalmology. 2008;115(11):1965-1972.
    • (2008) Ophthalmology , vol.115 , Issue.11 , pp. 1965-1972
    • Liang, Y.B.1    Friedman, D.S.2    Wong, T.Y.3
  • 5
  • 6
    • 0041784448 scopus 로고    scopus 로고
    • Interactions of genes and environment in myopia
    • Feldkämper M, Schaeffel F. Interactions of genes and environment in myopia. Dev Ophthalmol. 2003;37:34-49.
    • (2003) Dev Ophthalmol , vol.37 , pp. 34-49
    • Feldkämper, M.1    Schaeffel, F.2
  • 9
    • 36749028924 scopus 로고    scopus 로고
    • A review of current approaches to identifying human genes involved in myopia
    • Tang WC, Yap MK, Yip SP. A review of current approaches to identifying human genes involved in myopia. Clin Exp Optom. 2008;91(1):4-22.
    • (2008) Clin Exp Optom , vol.91 , Issue.1 , pp. 4-22
    • Tang, W.C.1    Yap, M.K.2    Yip, S.P.3
  • 10
    • 59849091828 scopus 로고    scopus 로고
    • Molecular genetics of human myopia: An update
    • Young TL. Molecular genetics of human myopia: an update. Optom Vis Sci. 2009; 86(1):E8-E22.
    • (2009) Optom Vis Sci , vol.86 , Issue.1
    • Young, T.L.1
  • 11
    • 60849123142 scopus 로고    scopus 로고
    • Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia
    • Yang Z, Xiao X, Li S, Zhang Q. Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia. Mol Vis. 2009;15:312-318.
    • (2009) Mol Vis , vol.15 , pp. 312-318
    • Yang, Z.1    Xiao, X.2    Li, S.3    Zhang, Q.4
  • 12
    • 67649980200 scopus 로고    scopus 로고
    • An international collaborative family-based whole-genome linkage scan for high-grade myopia
    • Li YJ, Guggenheim JA, Bulusu A, et al. An international collaborative family-based whole-genome linkage scan for high-grade myopia. Invest Ophthalmol Vis Sci. 2009;50(7):3116-3127.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , Issue.7 , pp. 3116-3127
    • Li, Y.J.1    Guggenheim, J.A.2    Bulusu, A.3
  • 14
    • 55449092600 scopus 로고    scopus 로고
    • Identification and replication of three novel myopia common susceptibility gene loci on chromosome 3q26 using linkage and linkage disequilibrium mapping
    • Andrew T, Maniatis N, Carbonaro F, et al. Identification and replication of three novel myopia common susceptibility gene loci on chromosome 3q26 using linkage and linkage disequilibrium mapping. PLoS Genet. 2008;4(10):e1000220.
    • (2008) PLoS Genet , vol.4 , Issue.10
    • Andrew, T.1    Maniatis, N.2    Carbonaro, F.3
  • 15
    • 53149130971 scopus 로고    scopus 로고
    • A genome-wide scan maps a novel high myopia locus to 5p15
    • Lam CY, Tam PO, Fan DS, et al. A genome-wide scan maps a novel high myopia locus to 5p15. Invest Ophthalmol Vis Sci. 2008;49(9):3768-3778.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , Issue.9 , pp. 3768-3778
    • Lam, C.Y.1    Tam, P.O.2    Fan, D.S.3
  • 17
    • 35748984424 scopus 로고    scopus 로고
    • Linkage replication of the MYP12 locus in common myopia
    • Chen CY, Stankovich J, Scurrah KJ, et al. Linkage replication of the MYP12 locus in common myopia. Invest Ophthalmol Vis Sci. 2007;48(10):4433-4439.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , Issue.10 , pp. 4433-4439
    • Chen, C.Y.1    Stankovich, J.2    Scurrah, K.J.3
  • 18
    • 33745905223 scopus 로고    scopus 로고
    • Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1
    • Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF. Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1. J Med Genet. 2006; 43(5):e20.
    • (2006) J Med Genet , vol.43 , Issue.5
    • Zhang, Q.1    Guo, X.2    Xiao, X.3    Jia, X.4    Li, S.5    Hejtmancik, J.F.6
  • 19
    • 26244468175 scopus 로고    scopus 로고
    • A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612
    • Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF. A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612. Mol Vis. 2005;11:554-560.
    • (2005) Mol Vis , vol.11 , pp. 554-560
    • Zhang, Q.1    Guo, X.2    Xiao, X.3    Jia, X.4    Li, S.5    Hejtmancik, J.F.6
  • 21
    • 24044490682 scopus 로고    scopus 로고
    • Genome-wide scan for myopia in the Old Order Amish
    • Stambolian D, Ciner EB, Reider LC, et al. Genome-wide scan for myopia in the Old Order Amish. Am J Ophthalmol. 2005;140(3):469-476.
    • (2005) Am J Ophthalmol , vol.140 , Issue.3 , pp. 469-476
    • Stambolian, D.1    Ciner, E.B.2    Reider, L.C.3
  • 23
    • 16644393713 scopus 로고    scopus 로고
    • Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family
    • Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. Mol Vis. 2004;10:890-900. (Pubitemid 41358203)
    • (2004) Molecular Vision , vol.10 , pp. 890-900
    • Zhang, Q.1    Guo, X.2    Xiao, X.3    Yi, J.4    Jia, X.5    Hejtmancik, J.F.6
  • 25
    • 3242656225 scopus 로고    scopus 로고
    • A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: A genomewide scan of dizygotic twins
    • Hammond CJ, Andrew T, Mak YT, Spector TD. A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins. Am J Hum Genet. 2004;75(2):294-304.
    • (2004) Am J Hum Genet , vol.75 , Issue.2 , pp. 294-304
    • Hammond, C.J.1    Andrew, T.2    Mak, Y.T.3    Spector, T.D.4
  • 26
    • 4143102458 scopus 로고    scopus 로고
    • Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12
    • Stambolian D, Ibay G, Reider L, et al. Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. Am J Hum Genet. 2004;75(3):448-459.
    • (2004) Am J Hum Genet , vol.75 , Issue.3 , pp. 448-459
    • Stambolian, D.1    Ibay, G.2    Reider, L.3
  • 27
    • 2942534721 scopus 로고    scopus 로고
    • X-linked high myopia associated with cone dysfunction
    • Young TL, Deeb SS, Ronan SM, et al. X-linked high myopia associated with cone dysfunction. Arch Ophthalmol. 2004;122(6):897-908.
    • (2004) Arch Ophthalmol , vol.122 , Issue.6 , pp. 897-908
    • Young, T.L.1    Deeb, S.S.2    Ronan, S.M.3
  • 29
    • 0032231298 scopus 로고    scopus 로고
    • A second locus for familial high myopia maps to chromosome 12q
    • Young TL, Ronan SM, Alvear AB, et al. A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet. 1998;63(5):1419-1424.
    • (1998) Am J Hum Genet , vol.63 , Issue.5 , pp. 1419-1424
    • Young, T.L.1    Ronan, S.M.2    Alvear, A.B.3
  • 30
    • 0032231942 scopus 로고    scopus 로고
    • Evidence that a locus for familial high myopia maps to chromosome 18p
    • Young TL, Ronan SM, Drahozal LA, et al. Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet. 1998;63(1):109-119.
    • (1998) Am J Hum Genet , vol.63 , Issue.1 , pp. 109-119
    • Young, T.L.1    Ronan, S.M.2    Drahozal, L.A.3
  • 31
    • 0025095962 scopus 로고
    • X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq
    • Schwartz M, Haim M, Skarsholm D. X-linked myopia: Bornholm eye disease: linkage to DNA markers on the distal part of Xq. Clin Genet. 1990;38(4):281-286. (Pubitemid 20340850)
    • (1990) Clinical Genetics , vol.38 , Issue.4 , pp. 281-286
    • Schwartz, M.1    Haim, M.2    Skarsholm, D.3
  • 32
    • 44349100253 scopus 로고    scopus 로고
    • Genetic dissection of myopia: Evidence for linkage of ocular axial length to chromosome 5q
    • e2
    • Zhu G, Hewitt AW, Ruddle JB, et al. Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q. Ophthalmology. 2008;115 (6):1053-1057, e2.
    • (2008) Ophthalmology , vol.115 , Issue.6 , pp. 1053-1057
    • Zhu, G.1    Hewitt, A.W.2    Ruddle, J.B.3
  • 34
    • 25844503854 scopus 로고    scopus 로고
    • Refractive error in urban and rural adult Chinese in Beijing
    • DOI 10.1016/j.ophtha.2005.05.015, PII S0161642005008043
    • Xu L, Li J, Cui T, et al. Refractive error in urban and rural adult Chinese in Beijing. Ophthalmology. 2005;112(10):1676-1683. (Pubitemid 41400002)
    • (2005) Ophthalmology , vol.112 , Issue.10 , pp. 1676-1683
    • Xu, L.1    Li, J.2    Cui, T.3    Hu, A.4    Fan, G.5    Zhang, R.6    Yang, H.7    Sun, B.8    Jonas, J.B.9
  • 35
    • 70350567771 scopus 로고    scopus 로고
    • Refractive errors in a rural Chinese adult population the Handan eye study
    • Liang YB, Wong TY, Sun LP, et al. Refractive errors in a rural Chinese adult population the Handan eye study. Ophthalmology. 2009;116(11):2119-2127.
    • (2009) Ophthalmology , vol.116 , Issue.11 , pp. 2119-2127
    • Liang, Y.B.1    Wong, T.Y.2    Sun, L.P.3
  • 37
    • 38549176905 scopus 로고    scopus 로고
    • Refractive errors in an elderly Japanese population: The Tajimi study
    • Tajimi Study Group e3
    • Sawada A, Tomidokoro A, Araie M, Iwase A, Yamamoto T; Tajimi Study Group. Refractive errors in an elderly Japanese population: the Tajimi study. Ophthalmology. 2008;115(2):363-370, e3.
    • (2008) Ophthalmology , vol.115 , Issue.2 , pp. 363-370
    • Sawada, A.1    Tomidokoro, A.2    Araie, M.3    Iwase, A.4    Yamamoto, T.5
  • 38
    • 0023775786 scopus 로고
    • Skarsholm. X-linked myopia in Danish family
    • Haim M, Fledelius HC, Skarsholm. X-linked myopia in Danish family. Acta Ophthalmol (Copenh). 1988;66(4):450-456.
    • (1988) Acta Ophthalmol (Copenh) , vol.66 , Issue.4 , pp. 450-456
    • Haim, M.1    Fledelius, H.C.2
  • 39
    • 34247586191 scopus 로고    scopus 로고
    • Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1
    • DOI 10.1007/s10038-007-0130-9
    • Zhang Q, Li S, Xiao X, Jia X, Guo X. Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1. J Hum Genet. 2007;52(5):469-472. (Pubitemid 46669305)
    • (2007) Journal of Human Genetics , vol.52 , Issue.5 , pp. 469-472
    • Zhang, Q.1    Li, S.2    Xiao, X.3    Jia, X.4    Guo, X.5
  • 40
    • 59049100882 scopus 로고    scopus 로고
    • ISCEV standard for full-field clinical electroretinography (2008 update)
    • International Society for Clinical Electrophysiology of Vision
    • Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M; International Society for Clinical Electrophysiology of Vision. ISCEV standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009;118(1):69-77.
    • (2009) Doc Ophthalmol , vol.118 , Issue.1 , pp. 69-77
    • Marmor, M.F.1    Fulton, A.B.2    Holder, G.E.3    Miyake, Y.4    Brigell, M.5    Bach, M.6
  • 41
    • 31544452824 scopus 로고    scopus 로고
    • Linkage analysis of two families with X-linked recessive congenital motor nystagmus
    • Guo X, Li S, Jia X, Xiao X, Wang P, Zhang Q. Linkage analysis of two families with X-linked recessive congenital motor nystagmus. J Hum Genet. 2006;51 (1):76-80.
    • (2006) J Hum Genet , vol.51 , Issue.1 , pp. 76-80
    • Guo, X.1    Li, S.2    Jia, X.3    Xiao, X.4    Wang, P.5    Zhang, Q.6
  • 42
    • 0032576744 scopus 로고    scopus 로고
    • X inactivation in females with X-linked disease
    • Puck JM, Willard HF. X inactivation in females with X-linked disease. N Engl J Med. 1998;338(5):325-328.
    • (1998) N Engl J Med , vol.338 , Issue.5 , pp. 325-328
    • Puck, J.M.1    Willard, H.F.2
  • 43
    • 0025329757 scopus 로고
    • Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
    • Richards CS, Watkins SC, Hoffman EP, et al. Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet. 1990; 46(4):672-681.
    • (1990) Am J Hum Genet , vol.46 , Issue.4 , pp. 672-681
    • Richards, C.S.1    Watkins, S.C.2    Hoffman, E.P.3
  • 45
    • 0028877463 scopus 로고
    • Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
    • Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 1995;11(3):241-247.
    • (1995) Nat Genet , vol.11 , Issue.3 , pp. 241-247
    • Lander, E.1    Kruglyak, L.2
  • 46
    • 64049103063 scopus 로고    scopus 로고
    • High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes
    • Wang P, Li S, Xiao X, et al. High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes. Invest Ophthalmol Vis Sci. 2009;50 (4):1546-1551.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , Issue.4 , pp. 1546-1551
    • Wang, P.1    Li, S.2    Xiao, X.3
  • 47
    • 33846061148 scopus 로고    scopus 로고
    • Complex trait genetics of refractive error
    • DOI 10.1001/archopht.125.1.38
    • Young TL, Metlapally R, Shay AE. Complex trait genetics of refractive error. Arch Ophthalmol. 2007;125(1):38-48. (Pubitemid 46072374)
    • (2007) Archives of Ophthalmology , vol.125 , Issue.1 , pp. 38-48
    • Young, T.L.1    Metlapally, R.2    Shay, A.E.3
  • 48
    • 26444438725 scopus 로고    scopus 로고
    • Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia
    • Ibay G, Doan B, Reider L, et al. Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia. BMC Med Genet. 2004;5:20.
    • (2004) BMC Med Genet , vol.5 , pp. 20
    • Ibay, G.1    Doan, B.2    Reider, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.