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Volumn 116, Issue 1, 2009, Pages

A New Locus for Congenital Cataract, Microcornea, Microphthalmia, and Atypical Iris Coloboma Maps to Chromosome 2

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN; TRANSCRIPTION FACTOR MAF; TRANSCRIPTION FACTOR PAX6;

EID: 57949086477     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2008.08.044     Document Type: Article
Times cited : (13)

References (39)
  • 1
    • 0035020477 scopus 로고    scopus 로고
    • Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK
    • British Congenital Cataract Interest Group
    • Rahi J.S., Dezateux C., and British Congenital Cataract Interest Group. Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK. Invest Ophthalmol Vis Sci 42 (2001) 1444-1448
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 1444-1448
    • Rahi, J.S.1    Dezateux, C.2
  • 2
    • 0036290184 scopus 로고    scopus 로고
    • Aetiology of congenital and paediatric cataract in an Australian population
    • Wirth M.G., Russell-Eggitt I.M., Craig J.E., et al. Aetiology of congenital and paediatric cataract in an Australian population. Br J Ophthalmol 86 (2002) 782-786
    • (2002) Br J Ophthalmol , vol.86 , pp. 782-786
    • Wirth, M.G.1    Russell-Eggitt, I.M.2    Craig, J.E.3
  • 3
    • 0037385658 scopus 로고    scopus 로고
    • Birth prevalence of visually significant infantile cataract in a defined U.S. population
    • Holmes J.M., Leske D.A., Burke J.P., and Hodge D.O. Birth prevalence of visually significant infantile cataract in a defined U.S. population. Ophthalmic Epidemiol 10 (2003) 67-74
    • (2003) Ophthalmic Epidemiol , vol.10 , pp. 67-74
    • Holmes, J.M.1    Leske, D.A.2    Burke, J.P.3    Hodge, D.O.4
  • 4
  • 5
    • 0036166369 scopus 로고    scopus 로고
    • A locus for isolated cataract on human Xp
    • Francis P.J., Berry V., Hardcastle A.J., et al. A locus for isolated cataract on human Xp. J Med Genet 39 (2002) 105-109
    • (2002) J Med Genet , vol.39 , pp. 105-109
    • Francis, P.J.1    Berry, V.2    Hardcastle, A.J.3
  • 7
    • 0004198327 scopus 로고
    • Royal Van Gorcum, Ltd, Assen, Netherlands Chapters IV-VIII
    • Francois J. Congenital Cataracts (1963), Royal Van Gorcum, Ltd, Assen, Netherlands 101-201 Chapters IV-VIII
    • (1963) Congenital Cataracts , pp. 101-201
    • Francois, J.1
  • 8
    • 0037356979 scopus 로고    scopus 로고
    • The morphology and natural history of childhood cataracts
    • Amaya L., Taylor D., Russell-Eggitt I., et al. The morphology and natural history of childhood cataracts. Surv Ophthalmol 48 (2003) 125-144
    • (2003) Surv Ophthalmol , vol.48 , pp. 125-144
    • Amaya, L.1    Taylor, D.2    Russell-Eggitt, I.3
  • 9
    • 0032792185 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity in autosomal dominant cataract
    • Ionides A., Francis P., Berry V., et al. Clinical and genetic heterogeneity in autosomal dominant cataract. Br J Ophthalmol 83 (1999) 802-808
    • (1999) Br J Ophthalmol , vol.83 , pp. 802-808
    • Ionides, A.1    Francis, P.2    Berry, V.3
  • 10
    • 0027451805 scopus 로고
    • Genetic etiology of nuclear cataract: evidence for a major gene
    • Heiba I.M., Elston R.C., Klein B.E., and Klein R. Genetic etiology of nuclear cataract: evidence for a major gene. Am J Med Genet 47 (1993) 1208-1214
    • (1993) Am J Med Genet , vol.47 , pp. 1208-1214
    • Heiba, I.M.1    Elston, R.C.2    Klein, B.E.3    Klein, R.4
  • 11
    • 0035092408 scopus 로고    scopus 로고
    • The heritability of age-related cortical cataract: the twin eye study
    • Hammond C.J., Duncan D.D., Snieder H., et al. The heritability of age-related cortical cataract: the twin eye study. Invest Ophthalmol Vis Sci 42 (2001) 601-605
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 601-605
    • Hammond, C.J.1    Duncan, D.D.2    Snieder, H.3
  • 14
    • 57949094506 scopus 로고
    • Duke-Elder S. (Ed), Henry Klimpton, London System of ophthalmology. Vol. 3. Part 2
    • In: Duke-Elder S. (Ed). Normal and Abnormal Development. Congenital Deformities (1964), Henry Klimpton, London 503 System of ophthalmology. Vol. 3. Part 2
    • (1964) Normal and Abnormal Development. Congenital Deformities , pp. 503
  • 15
    • 0021795785 scopus 로고
    • Refractive development of the human eye
    • Gordon R.A., and Donzis P.B. Refractive development of the human eye. Arch Ophthalmol 103 (1985) 785-789
    • (1985) Arch Ophthalmol , vol.103 , pp. 785-789
    • Gordon, R.A.1    Donzis, P.B.2
  • 16
    • 2442684463 scopus 로고    scopus 로고
    • CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype
    • Ferrini W., Schorderet D.F., Othenin-Girard P., et al. CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype. Invest Ophthalmol Vis Sci 45 (2004) 1436-1441
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 1436-1441
    • Ferrini, W.1    Schorderet, D.F.2    Othenin-Girard, P.3
  • 17
    • 57949092710 scopus 로고
    • Duke-Elder S. (Ed), Henry Klimpton, London System of ophthalmology. Vol. 3. Part 2. 573-9
    • In: Duke-Elder S. (Ed). Normal and Abnormal Development. Congenital Deformities (1964), Henry Klimpton, London 470 System of ophthalmology. Vol. 3. Part 2. 573-9
    • (1964) Normal and Abnormal Development. Congenital Deformities , pp. 470
  • 18
    • 0032899711 scopus 로고    scopus 로고
    • Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
    • Hanson I., Churchill A., Love J., et al. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet 8 (1999) 165-172
    • (1999) Hum Mol Genet , vol.8 , pp. 165-172
    • Hanson, I.1    Churchill, A.2    Love, J.3
  • 19
    • 57949098017 scopus 로고    scopus 로고
    • Waardenburg PJ, Franceschetti A, Klein D. Genetics and Ophthalmology. vol. 1, Royal Van Gorcum, Ltd, Assen, Netherland, Chapter XI: Uveal membrane. V. Colobomas 1961:783.
    • Waardenburg PJ, Franceschetti A, Klein D. Genetics and Ophthalmology. vol. 1, Royal Van Gorcum, Ltd, Assen, Netherland, Chapter XI: Uveal membrane. V. Colobomas 1961:783.
  • 20
    • 0015717962 scopus 로고
    • The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome [in German]
    • Delleman J.W., and Winkelman J.E. The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome [in German]. Klin Monatsbl Augenheilkd 163 (1973) 528-542
    • (1973) Klin Monatsbl Augenheilkd , vol.163 , pp. 528-542
    • Delleman, J.W.1    Winkelman, J.E.2
  • 21
    • 0007737192 scopus 로고
    • Congenital microphthalmos: a pedigree of four affected siblings and an additional report of forty four sporadic cases
    • Zeiter H.J. Congenital microphthalmos: a pedigree of four affected siblings and an additional report of forty four sporadic cases. Am J Ophthalmol 55 (1963) 910-922
    • (1963) Am J Ophthalmol , vol.55 , pp. 910-922
    • Zeiter, H.J.1
  • 23
    • 0026802070 scopus 로고
    • Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation
    • Yokoyama Y., Narahara K., Tsuji K., et al. Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation. Hum Genet 90 (1992) 177-178
    • (1992) Hum Genet , vol.90 , pp. 177-178
    • Yokoyama, Y.1    Narahara, K.2    Tsuji, K.3
  • 24
    • 33846993052 scopus 로고    scopus 로고
    • New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia
    • Beby F., Commeaux C., Bozon M., et al. New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. Arch Ophthalmol 125 (2007) 213-216
    • (2007) Arch Ophthalmol , vol.125 , pp. 213-216
    • Beby, F.1    Commeaux, C.2    Bozon, M.3
  • 25
    • 0034425404 scopus 로고    scopus 로고
    • Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
    • Ferda Percin E., Ploder L.A., Yu J.J., et al. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet 25 (2000) 397-401
    • (2000) Nat Genet , vol.25 , pp. 397-401
    • Ferda Percin, E.1    Ploder, L.A.2    Yu, J.J.3
  • 26
    • 26244438342 scopus 로고
    • Hereditary microcornea and cataract in five generations
    • Friedman M.W., and Wright E.S. Hereditary microcornea and cataract in five generations. Am J Ophthalmol 35 (1952) 1017-1021
    • (1952) Am J Ophthalmol , vol.35 , pp. 1017-1021
    • Friedman, M.W.1    Wright, E.S.2
  • 27
    • 0023895786 scopus 로고
    • Variable expressivity of autosomal dominant microcornea with cataract
    • Salmon J.F., Wallis C.E., and Murray A.D. Variable expressivity of autosomal dominant microcornea with cataract. Arch Ophthalmol 106 (1988) 505-510
    • (1988) Arch Ophthalmol , vol.106 , pp. 505-510
    • Salmon, J.F.1    Wallis, C.E.2    Murray, A.D.3
  • 29
    • 26244461031 scopus 로고    scopus 로고
    • CRYBB1 mutation associated with congenital cataract and microcornea
    • Willoughby C.E., Shafiq A., Ferrini W., et al. CRYBB1 mutation associated with congenital cataract and microcornea. Mol Vis 11 (2005) 587-593
    • (2005) Mol Vis , vol.11 , pp. 587-593
    • Willoughby, C.E.1    Shafiq, A.2    Ferrini, W.3
  • 30
    • 33646888160 scopus 로고    scopus 로고
    • A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family
    • Vanita V., Singh J.R., Hejtmancik J.F., et al. A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. Mol Vis 12 (2006) 518-522
    • (2006) Mol Vis , vol.12 , pp. 518-522
    • Vanita, V.1    Singh, J.R.2    Hejtmancik, J.F.3
  • 31
    • 33645115350 scopus 로고    scopus 로고
    • Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea
    • Devi R.R., and Vijayalakshmi P. Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. Mol Vis 12 (2006) 190-195
    • (2006) Mol Vis , vol.12 , pp. 190-195
    • Devi, R.R.1    Vijayalakshmi, P.2
  • 32
    • 0021866720 scopus 로고
    • Autosomal dominant cataract and microcornea associated with myopia in a Sicilian family
    • Mollica F., Li Volti S., Tomarchio S., et al. Autosomal dominant cataract and microcornea associated with myopia in a Sicilian family. Clin Genet 28 (1985) 42-46
    • (1985) Clin Genet , vol.28 , pp. 42-46
    • Mollica, F.1    Li Volti, S.2    Tomarchio, S.3
  • 33
    • 0018640338 scopus 로고
    • Autosomal dominant cataracts and microcornea
    • Polomeno R.C., and Cummings C. Autosomal dominant cataracts and microcornea. Can J Ophthalmol 14 (1979) 227-229
    • (1979) Can J Ophthalmol , vol.14 , pp. 227-229
    • Polomeno, R.C.1    Cummings, C.2
  • 34
    • 0036156544 scopus 로고    scopus 로고
    • Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
    • Jamieson R.V., Perveen R., Kerr B., et al. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet 11 (2002) 33-42
    • (2002) Hum Mol Genet , vol.11 , pp. 33-42
    • Jamieson, R.V.1    Perveen, R.2    Kerr, B.3
  • 35
    • 0345270026 scopus 로고    scopus 로고
    • Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family
    • Jamieson R.V., Munier F., Balmer A., et al. Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. Br J Ophthalmol 87 (2003) 411-412
    • (2003) Br J Ophthalmol , vol.87 , pp. 411-412
    • Jamieson, R.V.1    Munier, F.2    Balmer, A.3
  • 36
    • 0031934121 scopus 로고    scopus 로고
    • Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
    • Litt M., Kramer P., LaMorticella D.M., et al. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 7 (1998) 471-474
    • (1998) Hum Mol Genet , vol.7 , pp. 471-474
    • Litt, M.1    Kramer, P.2    LaMorticella, D.M.3
  • 37
    • 0030914095 scopus 로고    scopus 로고
    • Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2
    • Litt M., Carrero-Valenzuela R., LaMorticella D.M., et al. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet 6 (1997) 665-668
    • (1997) Hum Mol Genet , vol.6 , pp. 665-668
    • Litt, M.1    Carrero-Valenzuela, R.2    LaMorticella, D.M.3
  • 38
    • 35148832522 scopus 로고    scopus 로고
    • Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8
    • Hansen L., Yao W., Eiberg H., et al. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci 48 (2007) 3937-3944
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 3937-3944
    • Hansen, L.1    Yao, W.2    Eiberg, H.3
  • 39
    • 35548956910 scopus 로고    scopus 로고
    • Novel MAF mutation in a family with congenital cataract-microcornea syndrome
    • Hansen L., Eiberg H., and Rosenberg T. Novel MAF mutation in a family with congenital cataract-microcornea syndrome. Mol Vis 13 (2007) 2019-2022
    • (2007) Mol Vis , vol.13 , pp. 2019-2022
    • Hansen, L.1    Eiberg, H.2    Rosenberg, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.