메뉴 건너뛰기




Volumn 83, Issue 7, 1999, Pages 802-808

Clinical and genetic heterogeneity in autosomal dominant cataract

Author keywords

[No Author keywords available]

Indexed keywords

ANTERIOR EYE SEGMENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; CONGENITAL CATARACT; DISEASE SEVERITY; EYE PHOTOGRAPHY; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; LENS; MAJOR CLINICAL STUDY; MOLECULAR BIOLOGY; MORPHOLOGY; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032792185     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.83.7.802     Document Type: Article
Times cited : (104)

References (49)
  • 1
    • 0001886761 scopus 로고    scopus 로고
    • Blindness and partial sight in England and Wales: April 1990-March 1991
    • Evans J, Rooney C, Ashwood F, et al. Blindness and partial sight in England and Wales: April 1990-March 1991. Health Trends 1996;28:5-12.
    • (1996) Health Trends , vol.28 , pp. 5-12
    • Evans, J.1    Rooney, C.2    Ashwood, F.3
  • 3
    • 2442758182 scopus 로고
    • Treasury of human inheritance. Part 4. Section XIIIa. Congenital cataract
    • Harman N. Treasury of human inheritance. Part 4. Section XIIIa. Congenital cataract. Eugenics Library Memoirs XI 1910.
    • (1910) Eugenics Library Memoirs , vol.11
    • Harman, N.1
  • 8
    • 0028231090 scopus 로고
    • The 1993-1994 Genethon human linkage map
    • Gyapay G, Morisette J, Vignal A, et al. The 1993-1994 Genethon human linkage map. Nat Genet 1994;7:246-339.
    • (1994) Nat Genet , vol.7 , pp. 246-339
    • Gyapay, G.1    Morisette, J.2    Vignal, A.3
  • 9
    • 0030978852 scopus 로고    scopus 로고
    • Autosomal dominant congenital cataract linked to chromosome 13
    • Mackay D, Ionides A, Berry V, et al. Autosomal dominant congenital cataract linked to chromosome 13. Am J Hum Genet 1997;60:1474-8.
    • (1997) Am J Hum Genet , vol.60 , pp. 1474-1478
    • Mackay, D.1    Ionides, A.2    Berry, V.3
  • 10
    • 0021342011 scopus 로고
    • Congenital anterior polar cataract: A review of 63 cases
    • Jaafar M, Robb R. Congenital anterior polar cataract: a review of 63 cases. Ophthalmology 1984;91:249-52.
    • (1984) Ophthalmology , vol.91 , pp. 249-252
    • Jaafar, M.1    Robb, R.2
  • 11
    • 0026671929 scopus 로고
    • Anterior polar congenital cataract and corneal astigmatism
    • Bouzas A. Anterior polar congenital cataract and corneal astigmatism. J Paediatr Ophthalmol Strabismus 1992;29: 210-12.
    • (1992) J Paediatr Ophthalmol Strabismus , vol.29 , pp. 210-212
    • Bouzas, A.1
  • 12
    • 0031747433 scopus 로고    scopus 로고
    • Anterior polar cataract: Clinical spectrum and genetic linkage in a single family
    • Ionides A, Berry V, Mackay D, et al. Anterior polar cataract: clinical spectrum and genetic linkage in a single family. Eye 1998;12:224-6.
    • (1998) Eye , vol.12 , pp. 224-226
    • Ionides, A.1    Berry, V.2    Mackay, D.3
  • 13
    • 0030066487 scopus 로고    scopus 로고
    • A locus for autosomal dominant anterior polar cataract on chromosome 17p
    • Berry V, Ionides A, Moore A, et al. A locus for autosomal dominant anterior polar cataract on chromosome 17p. Mol Genet 1996;5:415-19.
    • (1996) Mol Genet , vol.5 , pp. 415-419
    • Berry, V.1    Ionides, A.2    Moore, A.3
  • 14
    • 0031021393 scopus 로고    scopus 로고
    • A locus for autosomal dominant posterior polar cataract on chromosome 1p
    • Ionides A, Berry V, Mackay D, et al. A locus for autosomal dominant posterior polar cataract on chromosome 1p, Hum Mol Genet 1997;6:47-51.
    • (1997) Hum Mol Genet , vol.6 , pp. 47-51
    • Ionides, A.1    Berry, V.2    Mackay, D.3
  • 15
    • 0242663762 scopus 로고
    • A pedigree of Doyne's discoid cataract
    • Smith P. A pedigree of Doyne's discoid cataract. Trans Ophthalmol Soc UK 1910;30:37-42.
    • (1910) Trans Ophthalmol Soc UK , vol.30 , pp. 37-42
    • Smith, P.1
  • 16
    • 0242495394 scopus 로고
    • Ten pedigrees of congenital and infantile cataract; lamellar, coralliform, discoid and posterior polar with microphthalmia
    • Harman N. Ten pedigrees of congenital and infantile cataract; lamellar, coralliform, discoid and posterior polar with microphthalmia. Trans Ophthalmol Soc UK 1910;30: 251-74.
    • (1910) Trans Ophthalmol Soc UK , vol.30 , pp. 251-274
    • Harman, N.1
  • 17
    • 0023131304 scopus 로고
    • A locus for human hereditary cataract is closely linked to the gamma-crystallin gene family
    • Lubsen N, Renwick J, Tsui L-C, et al. A locus for human hereditary cataract is closely linked to the gamma-crystallin gene family. Proc Natl Acad Sci USA 1987;84:489-92.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 489-492
    • Lubsen, N.1    Renwick, J.2    Tsui, L.-C.3
  • 18
  • 19
    • 0242663766 scopus 로고
    • Peculiar coralliform cataract with crystals in the lens
    • Gunn RM. Peculiar coralliform cataract with crystals in the lens. Trans Ophthalmol Soc UK 1895;XV:119.
    • (1895) Trans Ophthalmol Soc UK , vol.15 , pp. 119
    • Gunn, R.M.1
  • 20
    • 0242579743 scopus 로고
    • Die spezifitat auder borener und erworbener starformer fur die einzelnen linsezouene
    • Vogt A, Die spezifitat auder borener und erworbener starformer fur die einzelnen linsezouene. Albrecht Von Graefes Arch Clin Exp Ophth 1922;108:219-28.
    • (1922) Albrecht Von Graefes Arch Clin Exp Ophth , vol.108 , pp. 219-228
    • Vogt, A.1
  • 22
    • 0025090995 scopus 로고
    • Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts
    • Bodker F, Lavery M, Mitchell T, et al. Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts. Am J Med Genet 1990;37:54-9.
    • (1990) Am J Med Genet , vol.37 , pp. 54-59
    • Bodker, F.1    Lavery, M.2    Mitchell, T.3
  • 23
    • 0031959735 scopus 로고    scopus 로고
    • A missense mutation in the human connexin 50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q
    • Shiels A, Mackay D, Ionides A, et al. A missense mutation in the human connexin 50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet 1998;62:526-32.
    • (1998) Am J Hum Genet , vol.62 , pp. 526-532
    • Shiels, A.1    Mackay, D.2    Ionides, A.3
  • 24
    • 0029002373 scopus 로고
    • Assignment of congenital cataract Volkmann-type (CCV) to chromosome 1p36
    • Eiberg H, Lund A, Warburg M, et al. Assignment of congenital cataract Volkmann-type (CCV) to chromosome 1p36. Hum Genet 1995;96:33-8.
    • (1995) Hum Genet , vol.96 , pp. 33-38
    • Eiberg, H.1    Lund, A.2    Warburg, M.3
  • 25
    • 0023715273 scopus 로고
    • Marner's cataract (CAM) assigned to chromosome 16: Linkage to haptoglobin
    • Eiberg E, Marner E, Rosenberg T, et al. Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clin Genet 1988;34:272-5.
    • (1988) Clin Genet , vol.34 , pp. 272-275
    • Eiberg, E.1    Marner, E.2    Rosenberg, T.3
  • 26
    • 0028364446 scopus 로고
    • Autosomal dominant congenital cataract, Interocular phenotypic variability
    • Scott M, Hejunancik J, Wozencraft L, et al. Autosomal dominant congenital cataract, Interocular phenotypic variability. Ophthalmology 1994;101:866-71.
    • (1994) Ophthalmology , vol.101 , pp. 866-871
    • Scott, M.1    Hejunancik, J.2    Wozencraft, L.3
  • 27
    • 0028835546 scopus 로고
    • A progressive early onset cataract gene maps to human chromosome 17q24
    • Armitage M, Kivlin J, Ferrel R. A progressive early onset cataract gene maps to human chromosome 17q24. Nat Genet 1995;9:37-40.
    • (1995) Nat Genet , vol.9 , pp. 37-40
    • Armitage, M.1    Kivlin, J.2    Ferrel, R.3
  • 28
    • 0030217901 scopus 로고    scopus 로고
    • A second gene for cerulean cataract maps to the beta-crystallin region on chromosome 22
    • Kramer P, Yount J, Michell T, et al. A second gene for cerulean cataract maps to the beta-crystallin region on chromosome 22. Genomics 1996;35:539-42.
    • (1996) Genomics , vol.35 , pp. 539-542
    • Kramer, P.1    Yount, J.2    Michell, T.3
  • 29
    • 0000276611 scopus 로고
    • Congenital cataract possibly linked to haptoglobin
    • Richards J, Maumenee I, Rowe S, et al. Congenital cataract possibly linked to haptoglobin. Cytogenet Cell Genet 1994;37:570.
    • (1994) Cytogenet Cell Genet , vol.37 , pp. 570
    • Richards, J.1    Maumenee, I.2    Rowe, S.3
  • 30
    • 0028181012 scopus 로고
    • Activation of the gamma-E-crystallin pseudogene in the human herditary Coppock-like cataract
    • Brackenhoff R, Heskens H, Rossum MV, et al. Activation of the gamma-E-crystallin pseudogene in the human herditary Coppock-like cataract. Hum Mol Genet 1994;3:279-83.
    • (1994) Hum Mol Genet , vol.3 , pp. 279-283
    • Brackenhoff, R.1    Heskens, H.2    Rossum, M.V.3
  • 31
    • 0001788811 scopus 로고
    • Developmental biology of the lens
    • Duncan G, ed. London: Academic Press
    • McAvoy J. Developmental biology of the lens. In: Duncan G, ed. Mechanisms of cataract formation in the human lens. London: Academic Press, 1981:7-46.
    • (1981) Mechanisms of Cataract Formation in the Human Lens , pp. 7-46
    • McAvoy, J.1
  • 32
    • 0030914095 scopus 로고    scopus 로고
    • Autosomal dominant congenital cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2
    • Litt M, Carrero-Valenzuela R, LaMorticella D, et al. Autosomal dominant congenital cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet 1997;6:665-8.
    • (1997) Hum Mol Genet , vol.6 , pp. 665-668
    • Litt, M.1    Carrero-Valenzuela, R.2    Lamorticella, D.3
  • 33
    • 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, et al. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 1998;7:471-4.
    • (1998) Hum Mol Genet , vol.7 , pp. 471-474
    • Litt, M.1    Kramer, P.2    Lamorticella, D.3
  • 34
    • 0018919181 scopus 로고
    • A new model of hereditary cataract
    • Kador P, Fukui H, Fukushi S, et al. A new model of hereditary cataract. Exp Eye Res 1980;30:59.
    • (1980) Exp Eye Res , vol.30 , pp. 59
    • Kador, P.1    Fukui, H.2    Fukushi, S.3
  • 35
    • 0025778685 scopus 로고
    • Deletion mutation in an eye lens beta-crystallin
    • Chambers C, Russell P. Deletion mutation in an eye lens beta-crystallin. J Biol Chem 1991;266:6742-6.
    • (1991) J Biol Chem , vol.266 , pp. 6742-6746
    • Chambers, C.1    Russell, P.2
  • 36
    • 0019156310 scopus 로고
    • Impaired development of lens fibres in genetic microphthalmia, eye lens obsolescence, elo, of the mouse
    • Oda S-I, Watanabe K, Fujisawa H, et al. Impaired development of lens fibres in genetic microphthalmia, eye lens obsolescence, elo, of the mouse. Exp Eye Res 1980;31:673-81.
    • (1980) Exp Eye Res , vol.31 , pp. 673-681
    • Oda, S.-I.1    Watanabe, K.2    Fujisawa, H.3
  • 37
    • 0026921910 scopus 로고
    • A frameshift mutation in the gammaE-crystallin gene of the ELO mouse
    • Cartier M, Breitman M, Tsui L. A frameshift mutation in the gammaE-crystallin gene of the ELO mouse. Nat Genet 1992;2:42-5.
    • (1992) Nat Genet , vol.2 , pp. 42-45
    • Cartier, M.1    Breitman, M.2    Tsui, L.3
  • 38
    • 0023358851 scopus 로고
    • A gene location for the inheritance of the Cataract Fraser (CatFr) mouse congenital cataract
    • Muggleton-Harris A, Festing M, Hall M. A gene location for the inheritance of the Cataract Fraser (CatFr) mouse congenital cataract. Gen Res Camb 1987;49:235-9.
    • (1987) Gen Res Camb , vol.49 , pp. 235-239
    • Muggleton-Harris, A.1    Festing, M.2    Hall, M.3
  • 39
    • 0030031158 scopus 로고    scopus 로고
    • Mutations in the founder of the MIP gene family underlie cataract development in the mouse
    • Shiels A, Bassnett S. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat Genet 1996;12:212-15.
    • (1996) Nat Genet , vol.12 , pp. 212-215
    • Shiels, A.1    Bassnett, S.2
  • 40
    • 0029060142 scopus 로고
    • The small heat shock protein alphaB-crystallin as candidate autoantigen in multiple sclerosis
    • Noort Jv, Sechel Av, Bajramovic J, et al. The small heat shock protein alphaB-crystallin as candidate autoantigen in multiple sclerosis. Nature 1995;375:798-801.
    • (1995) Nature , vol.375 , pp. 798-801
    • Noort, Jv.1    Sechel, Av.2    Bajramovic, J.3
  • 41
    • 0022471253 scopus 로고
    • The gene for the major intrinsic protein (MIP) of the ocular lens is assigned to human chromosome 12cen-q14
    • Sparkes R, Mohandas T, Heinzman C. The gene for the major intrinsic protein (MIP) of the ocular lens is assigned to human chromosome 12cen-q14. Invest Ophthalmol Vis Sci 1986;27:1351-4.
    • (1986) Invest Ophthalmol Vis Sci , vol.27 , pp. 1351-1354
    • Sparkes, R.1    Mohandas, T.2    Heinzman, C.3
  • 43
    • 0031970686 scopus 로고    scopus 로고
    • Multifunctional lens crystallins and corneal enzymes. More than meets the eye
    • Piatigorsky J. Multifunctional lens crystallins and corneal enzymes. More than meets the eye. Ann NY Acad Sci 1998; 842:7-15.
    • (1998) Ann NY Acad Sci , vol.842 , pp. 7-15
    • Piatigorsky, J.1
  • 44
    • 0023225865 scopus 로고
    • Recruitment of enzymes as lens structural proteins
    • Wistow G, Piatigorsky J. Recruitment of enzymes as lens structural proteins. Science 1987;236:1554-5.
    • (1987) Science , vol.236 , pp. 1554-1555
    • Wistow, G.1    Piatigorsky, J.2
  • 45
    • 0024252493 scopus 로고
    • T-Crystallin/alpha enolase: One gene encodes both an enzyme and a lens structural protein
    • Wistow G, Leitman T, Williams L, et al. t-Crystallin/alpha enolase: one gene encodes both an enzyme and a lens structural protein. J Cell Biol 1988;107:2729-36.
    • (1988) J Cell Biol , vol.107 , pp. 2729-2736
    • Wistow, G.1    Leitman, T.2    Williams, L.3
  • 46
    • 0002288531 scopus 로고
    • Probable linkage between a congenital cataract locus and the Duffy blood group locus
    • Renwick J, Lawler S. Probable linkage between a congenital cataract locus and the Duffy blood group locus. Ann Hum Genet 1963;27:67-84.
    • (1963) Ann Hum Genet , vol.27 , pp. 67-84
    • Renwick, J.1    Lawler, S.2
  • 47
    • 9244251074 scopus 로고    scopus 로고
    • Linkage of polymorphic congenital cataract to the gamma-crystallin locus on human chromosome 2q33-35
    • Rogaev E, Rogaeva E, Korovaitseva G, F et al. Linkage of polymorphic congenital cataract to the gamma-crystallin locus on human chromosome 2q33-35. Hum Mol Genet 1996;5:699-703.
    • (1996) Hum Mol Genet , vol.5 , pp. 699-703
    • Rogaev, E.1    Rogaeva, E.2    Korovaitseva, G.3
  • 48
    • 0031811116 scopus 로고    scopus 로고
    • A novel homeobox gene PITX3 is mutated in families with autosomal dominant cataracts and ASMD
    • Semina E, Ferrell R, Mintz-Hittner H, et al. A novel homeobox gene PITX3 is mutated in families with autosomal dominant cataracts and ASMD. Nat Genet 1998;19:167-70.
    • (1998) Nat Genet , vol.19 , pp. 167-170
    • Semina, E.1    Ferrell, R.2    Mintz-Hittner, H.3
  • 49
    • 0029095859 scopus 로고
    • Autosomal dominant zonular cataract with suturai opacities localised to chromosome 17q11-12
    • Padma X, Ayyagari R, Murty J, et al. Autosomal dominant zonular cataract with suturai opacities localised to chromosome 17q11-12. Am J Hum Genet 1995;57:850-5.
    • (1995) Am J Hum Genet , vol.57 , pp. 850-855
    • Padma, X.1    Ayyagari, R.2    Murty, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.