Mutation analysis of 12 genes in Chinese families with congenital cataracts

Molecular Vision

Volumn 17, Issue , 2011, Pages 2197-2206

  Sun, Wenmin ^a   Xiao, Xueshan ^a   Li, Shiqiang ^a   Guo, Xiangming ^a   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 3 GAP JUNCTION PROTEIN; ALPHA 8 GAP JUNCTION PROTEIN; ALPHA B CRYSTALLIN; ALPHA CRYSTALLIN; BETA A1 CRYSTALLIN; BETA A4 CRYSTALLIN; BETA B1 CRYSTALLIN; BETA B2 CRYSTALLIN; BETA B3 CRYSTALLIN; BETA CRYSTALLIN; GAMMA C CRYSTALLIN; GAMMA CRYSTALLIN; GAMMA D CRYSTALLIN; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CONGENITAL CATARACT; CONTROLLED STUDY; CRYAA GENE; CRYAB GENE; CRYBA1 GENE; CRYBA4 GENE; CRYBB1 GENE; CRYBB2 GENE; CRYBB3 GENE; CRYGC GENE; CRYGD GENE; CRYGS GENE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GJA3 GENE; GJA8 GENE; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POPULATION GENETICS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALPHA-CRYSTALLIN B CHAIN; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CATARACT; CHILD; CHILD, PRESCHOOL; CONNEXINS; CRYSTALLINS; DNA MUTATIONAL ANALYSIS; GAMMA-CRYSTALLINS; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 80053003155     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (63)

1. Wilson ME, Pandey SK, Thakur J. Paediatric cataract blindness in the developing world: surgical techniques and intraocular lenses in the new millennium. Br J Ophthalmol 2003; 87:14-9. [PMID: 12488254]
2. Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 2004; 49:300-15. [PMID: 15110667]
3. Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 2008; 19:134-49. [PMID: 18035564]
4. Shiels A, Bennett TM, Hejtmancik JF. Cat-Map: putting cataract on the map. Mol Vis 2010; 16:2007-15. [PMID: 21042563]
5. Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 1998; 7:471-4. [PMID: 9467006]
6. Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E. A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest Ophthalmol Vis Sci 2000; 41:3511-5. [PMID: 11006246]
7. Santhiya ST, Soker T, Klopp N, Illig T, Prakash MV, Selvaraj B, Gopinath PM, Graw J. Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. Mol Vis 2006; 12:768-73. [PMID: 16862070]
8. Vanita V, Singh JR, Hejtmancik JF, Nuernberg P, Hennies HC, Singh D, Sperling K. A novel fan-shaped cataractmicrocornea syndrome caused by a mutation of CRYAA in an Indian family. Mol Vis 2006; 12:518-22. [PMID: 16735993]
9. Graw J, Klopp N, Illig T, Preising MN, Lorenz B. Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. Graefes Arch Clin Exp Ophthalmol 2006; 244:912-9. [PMID: 16453125]
10. Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF. Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis 2008; 14:1157-70. [PMID: 18587492]
11. Gu F, Luo W, Li X, Wang Z, Lu S, Zhang M, Zhao B, Zhu S, Feng S, Yan YB, Huang S, Ma X. A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. Hum Mutat 2008; 29:769. [PMID: 18407550]
12. Santana A, Waiswol M, Arcieri ES, Cabral de Vasconcellos JP, Barbosa de Melo M. Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. Mol Vis 2009; 15:793-800. [PMID: 19390652]
13. Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, Dawson G, Carey AH, Moore A, Bhattacharya SS, Quinlan RA. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet 2001; 69:1141-5. [PMID: 11577372]
14. Liu Y, Zhang X, Luo L, Wu M, Zeng R, Cheng G, Hu B, Liu B, Liang JJ, Shang F. A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. Invest Ophthalmol Vis Sci 2006; 47:1069-75. [PMID: 16505043]
15. Safieh LA, Khan AO, Alkuraya FS. Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. Mol Vis 2009; 15:980-4. [PMID: 19461931]
16. Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. Mol Vis 1998; 4:21. [PMID: 9788845]
17. Bateman JB, Geyer DD, Flodman P, Johannes M, Sikela J, Walter N, Moreira AT, Clancy K, Spence MA. A new betaA1-crystallin splice junction mutation in autosomal dominant cataract. Invest Ophthalmol Vis Sci 2000; 41:3278-85. [PMID: 11006214]
18. Reddy MA, Bateman OA, Chakarova C, Ferris J, Berry V, Lomas E, Sarra R, Smith MA, Moore AT, Bhattacharya SS, Slingsby C. Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. Hum Mol Genet 2004; 13:945-53. [PMID: 15016766]
19. Gu Z, Ji B, Wan C, He G, Zhang J, Zhang M, Feng G, He L, Gao L. A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. Mol Vis 2010; 16:154-60. [PMID: 20142846]
20. Zhu Y, Shentu X, Wang W, Li J, Jin C, Yao K. A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations. Mol Vis 2010; 16:2347-53. [PMID: 21139983]
21. Qi Y, Jia H, Huang S, Lin H, Gu J, Su H, Zhang T, Gao Y, Qu L, Li D, Li Y. A deletion mutation in the betaA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Hum Genet 2004; 114:192-7. [PMID: 14598164]
22. Ferrini W, Schorderet DF, Othenin-Girard P, Uffer S, Heon E, Munier FL. CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype. Invest Ophthalmol Vis Sci 2004; 45:1436-41. [PMID: 15111599]
23. Lu S, Zhao C, Jiao H, Kere J, Tang X, Zhao F, Zhang X, Zhao K, Larsson C. Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations. Mol Vis 2007; 13:1154-60. [PMID: 17653060]
24. Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J, Heon E. CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet 2006; 79:702-9. [PMID: 16960806]
25. Zhou G, Zhou N, Hu S, Zhao L, Zhang C, Qi Y. A missense mutation in CRYBA4 associated with congenital cataract and microcornea. Mol Vis 2010; 16:1019-24. [PMID: 20577656]
26. Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet 2002; 71:1216-21. [PMID: 12360425]
27. Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 2007; 48:2208-13. [PMID: 17460281]
28. Meyer E, Rahman F, Owens J, Pasha S, Morgan NV, Trembath RC, Stone EM, Moore AT, Maher ER. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. Mol Vis 2009; 15:1014-9. [PMID: 19461930]
29. Wang KJ, Wang BB, Zhang F, Zhao Y, Ma X, Zhu SQ. Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts. Arch Ophthalmol 2011; 129:337-43. [PMID: 21402992]
30. Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet 1997; 6:665-8. [PMID: 9158139]
31. Bateman JB, von-Bischhoffshaunsen FR, Richter L, Flodman P, Burch D, Spence MA. Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Ophthalmology 2007; 114:425-32. [PMID: 17234267]
32. Li FF, Zhu SQ, Wang SZ, Gao C, Huang SZ, Zhang M, Ma X. Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts. Mol Vis 2008; 14:750-5. [PMID: 18449377]
33. Wang L, Lin H, Gu J, Su H, Huang S, Qi Y. Autosomaldominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin. Ophthalmic Res 2009; 41:148-53. [PMID: 19321936]
34. Santhiya ST, Kumar GS, Sudhakar P, Gupta N, Klopp N, Illig T, Soker T, Groth M, Platzer M, Gopinath PM, Graw J. Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms. Mol Vis 2010; 16:1837-47. [PMID: 21031021]
35. Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci 2005; 46:2100-6. [PMID: 15914629]
36. Hansen L, Mikkelsen A, Nurnberg P, Nurnberg G, Anjum I, Eiberg H, Rosenberg T. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci 2009; 50:3291-303. [PMID: 19182255]
37. Héon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL. The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet 1999; 65:1261-7. [PMID: 10521291]
38. Yao K, Jin C, Zhu N, Wang W, Wu R, Jiang J, Shentu X. A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family. Mol Vis 2008; 14:1272-6. [PMID: 18618005]
39. Zhang L, Fu S, Ou Y, Zhao T, Su Y, Liu P. A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. Mol Vis 2009; 15:276-82. [PMID: 19204787]
40. Kumar M, Agarwal T, Khokhar S, Kumar M, Kaur P, Roy TS, Dada R. Mutation screening and genotype phenotype correlation of alpha-crystallin, gamma-crystallin and GJA8 gene in congenital cataract. Mol Vis 2011; 17:693-707. [PMID: 21423869]
41. Kmoch S, Brynda J, Asfaw B, Bezouska K, Novak P, Rezacova P, Ondrova L, Filipec M, Sedlacek J, Elleder M. Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. Hum Mol Genet 2000; 9:1779-86. [PMID: 10915766]
42. Zenteno JC, Morales ME, Moran-Barroso V, Sanchez-Navarro A. CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract. Mol Vis 2005; 11:438-42. [PMID: 16030500]
43. Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci 2007; 48:3937-44. [PMID: 17724170]
44. Sun H, Ma Z, Li Y, Liu B, Li Z, Ding X, Gao Y, Ma W, Tang X, Li X, Shen Y. Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. J Med Genet 2005; 42:706-10. [PMID: 16141006]
45. Vanita V, Singh JR, Singh D, Varon R, Sperling K. Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. Mol Vis 2009; 15:476-81. [PMID: 19262743]
46. Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S. Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet 1999; 64:1357-64. [PMID: 10205266]
47. Devi RR, Reena C, Vijayalakshmi P. Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population. Mol Vis 2005; 11:846-52. [PMID: 16254549
48. Addison PK, Berry V, Holden KR, Espinal D, Rivera B, Su H, Srivastava AK, Bhattacharya SS. A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family. Mol Vis 2006; 12:791-5. [PMID: 16885921]
49. Guleria K, Sperling K, Singh D, Varon R, Singh JR, Vanita V. A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family. Mol Vis 2007; 13:1657-65. [PMID: 17893674]
50. Bennett TM, Mackay DS, Knopf HL, Shiels A. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q. Mol Vis 2004; 10:376-82. [PMID: 15208569]
51. Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet 1998; 62:526-32. [PMID: 9497259]
52. Vanita V, Hennies HC, Singh D, Nurnberg P, Sperling K, Singh JR. A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. Mol Vis 2006; 12:1217-22. [PMID: 17110920]
53. Arora A, Minogue PJ, Liu X, Reddy MA, Ainsworth JR, Bhattacharya SS, Webster AR, Hunt DM, Ebihara L, Moore AT, Beyer EC, Berthoud VM. A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. J Med Genet 2006; 43:e2. [PMID: 16397066]
54. Ponnam SP, Ramesha K, Tejwani S, Ramamurthy B, Kannabiran C. Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet 2007; 44:e85. [PMID: 17601931]
55. Schmidt W, Klopp N, Illig T, Graw J. A novel GJA8 mutation causing a recessive triangular cataract. Mol Vis 2008; 14:851-6. [PMID: 18483562]
56. Yan M, Xiong C, Ye SQ, Chen Y, Ke M, Zheng F, Zhou X. A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract. Mol Vis 2008; 14:418-24. [PMID: 18334966]
57. Zhou Z, Hu S, Wang B, Zhou N, Zhou S, Ma X, Qi Y. Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3). Mol Vis 2010; 16:713-9. [PMID: 20431721]
58. Jiang H, Jin Y, Bu L, Zhang W, Liu J, Cui B, Kong X, Hu L. A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract. Mol Vis 2003; 9:579-83. [PMID: 14627959]
59. Zhang X, Li S, Xiao X, Jia X, Wang P, Shen H, Guo X, Zhang Q. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. Mol Vis 2009; 15:2911-8. [PMID: 20057906]
60. Hicks S, Wheeler DA, Plon SE, Kimmel M. Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed. Hum Mutat 2011; 32:661-8. [PMID: 21480434]
61. Zou M, Baitei EY, Alzahrani AS, Parhar RS, Al-Mohanna FA, Meyer BF, Shi Y. Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations. Endocrine 2011; 40:14-20. [PMID: 21480434]
62. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31:3812-4. [PMID: 12824425]
63. Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM. Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. Br J Ophthalmol 2004; 88:79-83. [PMID: 14693780]