메뉴 건너뛰기




Volumn 45, Issue 3, 2009, Pages 234-238

Gene mapping and mutation detection in a family with congenital nuclear cataract

Author keywords

Cataract; Chromosomes; Gamma crystallins; Human; Linkage (genetics); Pair 2; Pedigree

Indexed keywords

GAMMA CRYSTALLIN; MICROSATELLITE DNA;

EID: 63849095962     PISSN: 04124081     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0412-4081.2009.03.010     Document Type: Article
Times cited : (1)

References (29)
  • 1
    • 0027270179 scopus 로고
    • Causes of childhood blindness: Results from west Africa, south India and Chile
    • Gilbert GE, Canovas R, Hagan M, et al. Causes of childhood blindness: results from west Africa, south India and Chile. Eye, 1993, 7 (Pt 1) : 184-188.
    • (1993) Eye , vol.7 , Issue.PART 1 , pp. 184-188
    • Gilbert, G.E.1    Canovas, R.2    Hagan, M.3
  • 2
    • 49849089879 scopus 로고    scopus 로고
    • A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family
    • Gu F, Luo W, Li X, et al. A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. Hum Mutat, 2008, 29: 769.
    • (2008) Hum Mutat , vol.29 , pp. 769
    • Gu, F.1    Luo, W.2    Li, X.3
  • 3
    • 0034765821 scopus 로고    scopus 로고
    • Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans
    • Berry V, Francis P, Reddy MA, et al. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet, 2001, 69: 1141-1145.
    • (2001) Am J Hum Genet , vol.69 , pp. 1141-1145
    • Berry, V.1    Francis, P.2    Reddy, M.A.3
  • 4
    • 43149102909 scopus 로고    scopus 로고
    • A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract
    • Yang J, Zhu Y, Gu F, et al. A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract. Mol Vis, 2008, 14: 727-731.
    • (2008) Mol Vis , vol.14 , pp. 727-731
    • Yang, J.1    Zhu, Y.2    Gu, F.3
  • 5
    • 0034987735 scopus 로고    scopus 로고
    • A unique form of autosomal dominant cataract explained by gene conversion between betacrystallin B2 and its pseudogene
    • Vanita, Sarhadi V, Reis A, et al. A unique form of autosomal dominant cataract explained by gene conversion between betacrystallin B2 and its pseudogene. J Med Genet, 2001, 38: 392-396.
    • (2001) J Med Genet , vol.38 , pp. 392-396
    • Vanita1    Sarhadi, V.2    Reis, A.3
  • 6
    • 22144453269 scopus 로고    scopus 로고
    • Mutations in betaB3crystallin associated with autosomal recessive cataract in two Pakistani families
    • Riazuddin SA, Yasmeen A, Yao W, et al. Mutations in betaB3crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci, 2005, 46: 2100-2106.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 2100-2106
    • Riazuddin, S.A.1    Yasmeen, A.2    Yao, W.3
  • 7
    • 0032561116 scopus 로고    scopus 로고
    • Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene
    • Kannabiran C, Rogan PK, Olmos L, et al. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. Mol Vis, 1998, 4: 21.
    • (1998) Mol Vis , vol.4 , pp. 21
    • Kannabiran, C.1    Rogan, P.K.2    Olmos, L.3
  • 8
    • 33749032115 scopus 로고    scopus 로고
    • CRYBA4, a novel human cataract gene, is also involved in microphthalmia
    • Billingsley C, Santhiya ST, Paterson AD, et al. CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet, 2006, 79: 702-709.
    • (2006) Am J Hum Genet , vol.79 , pp. 702-709
    • Billingsley, C.1    Santhiya, S.T.2    Paterson, A.D.3
  • 9
    • 0033358423 scopus 로고    scopus 로고
    • The gamma-crystallins and human cataracts: A puzzle made clearer
    • Heon E, Priston M, Scborderet DF, et al. The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet, 1999, 65: 1261-1267.
    • (1999) Am J Hum Genet , vol.65 , pp. 1261-1267
    • Heon, E.1    Priston, M.2    Scborderet, D.F.3
  • 10
    • 0034045990 scopus 로고    scopus 로고
    • A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract
    • Ren Z, Li A, Shastry BS, et al. A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet, 2000, 106: 531-537.
    • (2000) Hum Genet , vol.106 , pp. 531-537
    • Ren, Z.1    Li, A.2    Shastry, B.S.3
  • 11
    • 0036093256 scopus 로고    scopus 로고
    • Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts
    • Santhiya ST, Shyam Manohar M, Rawlley D, et al. Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. J Med Genet, 2002, 39: 352-358.
    • (2002) J Med Genet , vol.39 , pp. 352-358
    • Santhiya, S.T.1    Shyam Manohar, M.2    Rawlley, D.3
  • 12
    • 34547395801 scopus 로고    scopus 로고
    • A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: Evidence of clinical heterogeneity
    • Gonzalez-Huerta LM, Messina-Baas OM, Cuevas-Covarrubias SA. A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity. Mol Vis, 2007, 13; 1333-1338.
    • (2007) Mol Vis , vol.13 , pp. 1333-1338
    • Gonzalez-Huerta, L.M.1    Messina-Baas, O.M.2    Cuevas-Covarrubias, S.A.3
  • 13
    • 48949116525 scopus 로고    scopus 로고
    • A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
    • Yao K, Jin C, Zhu N, et al. A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family. Mol Vis, 2008, 14: 1272-1276.
    • (2008) Mol Vis , vol.14 , pp. 1272-1276
    • Yao, K.1    Jin, C.2    Zhu, N.3
  • 14
    • 0037390818 scopus 로고    scopus 로고
    • Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts
    • Nandrot E, Slingsby C, Basak A, et al. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. J Med Genet, 2003, 40: 262-267.
    • (2003) J Med Genet , vol.40 , pp. 262-267
    • Nandrot, E.1    Slingsby, C.2    Basak, A.3
  • 15
    • 24944483800 scopus 로고    scopus 로고
    • Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans
    • Sun H, Ma Z, Li Y, et al. Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. J Med Genet, 2005, 42: 706-710.
    • (2005) J Med Genet , vol.42 , pp. 706-710
    • Sun, H.1    Ma, Z.2    Li, Y.3
  • 16
    • 0035697326 scopus 로고    scopus 로고
    • Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular Pulverulent cataract
    • Polyakov AV, Shagina IA, Khlebnikova OV, et al. Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular Pulverulent cataract. Clin Genet, 2001, 60: 476-478.
    • (2001) Clin Genet , vol.60 , pp. 476-478
    • Polyakov, A.V.1    Shagina, I.A.2    Khlebnikova, O.V.3
  • 17
    • 0034019915 scopus 로고    scopus 로고
    • Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)
    • Rees MI, Watts P, Fenton I, et al. Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). Hum Genet, 2000, 106: 206-209.
    • (2000) Hum Genet , vol.106 , pp. 206-209
    • Rees, M.I.1    Watts, P.2    Fenton, I.3
  • 18
    • 0034118380 scopus 로고    scopus 로고
    • Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q
    • Berry V, Francis P, Kaushal S, et al. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat Genet, 2000, 25: 15-17.
    • (2000) Nat Genet , vol.25 , pp. 15-17
    • Berry, V.1    Francis, P.2    Kaushal, S.3
  • 19
    • 46749144948 scopus 로고    scopus 로고
    • A missense mutation in LIM2 causes autosomal recessive congenital cataract
    • Ponnam SP, Ramesha K, Tejwani S, et al. A missense mutation in LIM2 causes autosomal recessive congenital cataract. Mol Vis, 2008, 14: 1204-1208.
    • (2008) Mol Vis , vol.14 , pp. 1204-1208
    • Ponnam, S.P.1    Ramesha, K.2    Tejwani, S.3
  • 20
    • 34147101803 scopus 로고    scopus 로고
    • Autosomal recessive juvenile onset cataract associated with mutation in BFSP1
    • Ramachandran RD, Perumalsamy V, Hejtmancik JF. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet, 2007, 121: 475-482.
    • (2007) Hum Genet , vol.121 , pp. 475-482
    • Ramachandran, R.D.1    Perumalsamy, V.2    Hejtmancik, J.F.3
  • 21
    • 33846012542 scopus 로고    scopus 로고
    • Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family
    • Zhang L, Gao L, Li Z, et al. Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. Mol Vis, 2006, 12: 1626-1631.
    • (2006) Mol Vis , vol.12 , pp. 1626-1631
    • Zhang, L.1    Gao, L.2    Li, Z.3
  • 22
    • 0031811116 scopus 로고    scopus 로고
    • A novel homeobox gene PITX3 is mutated in families with autosomaldominant cataracts and ASMD
    • Semina EV, Ferrell RE, Mintz-Hittner HA, et al. A novel homeobox gene PITX3 is mutated in families with autosomaldominant cataracts and ASMD. Nat Genet, 1998, 19: 167-170.
    • (1998) Nat Genet , vol.19 , pp. 167-170
    • Semina, E.V.1    Ferrell, R.E.2    Mintz-Hittner, H.A.3
  • 23
    • 33644861131 scopus 로고    scopus 로고
    • A novel mutation in the DNA-binding domain of MAF at 16q23. 1 associated with autosomal dominant "cerulean cataract" in an Indian family
    • Vanita V, Singh D, Robinson PN, et al. A novel mutation in the DNA-binding domain of MAF at 16q23. 1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am J Med Genet A, 2006, 140: 558-566.
    • (2006) Am J Med Genet A , vol.140 , pp. 558-566
    • Vanita, V.1    Singh, D.2    Robinson, P.N.3
  • 24
    • 18544383003 scopus 로고    scopus 로고
    • Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract
    • Bu L, Jin Y, Shi Y, et al. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet, 2002, 31: 276-278.
    • (2002) Nat Genet , vol.31 , pp. 276-278
    • Bu, L.1    Jin, Y.2    Shi, Y.3
  • 25
    • 0035253581 scopus 로고    scopus 로고
    • Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
    • Semina EV, Brownell I, Mintz-Hittner HA, et al. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet, 2001, 10: 231-236.
    • (2001) Hum Mol Genet , vol.10 , pp. 231-236
    • Semina, E.V.1    Brownell, I.2    Mintz-Hittner, H.A.3
  • 26
    • 0034639683 scopus 로고    scopus 로고
    • Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
    • Azuma N, Hirakiyama A, Inoue T, et al. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet, 2000, 9: 363-366.
    • (2000) Hum Mol Genet , vol.9 , pp. 363-366
    • Azuma, N.1    Hirakiyama, A.2    Inoue, T.3
  • 27
    • 0037181130 scopus 로고    scopus 로고
    • Conformational change and destabilization of cataract gammaC-crystallin T5P mutant
    • Fu L, Liang JJ. Conformational change and destabilization of cataract gammaC-crystallin T5P mutant, FEBS Lett, 2002, 513: 213-216.
    • (2002) FEBS Lett , vol.513 , pp. 213-216
    • Fu, L.1    Liang, J.J.2
  • 28
    • 0037336078 scopus 로고    scopus 로고
    • Alteration of protein-protein interactions of congenital cataract crystallin mutants
    • Fu L, Liang JJ. Alteration of protein-protein interactions of congenital cataract crystallin mutants. Invest Ophthalmol Vis Sci, 2003, 44: 1155-1159.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 1155-1159
    • Fu, L.1    Liang, J.J.2
  • 29
    • 63849242356 scopus 로고    scopus 로고
    • Chinese source.
    • Chinese source.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.