A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q

Molecular Vision

Volumn 17, Issue , 2011, Pages 2255-2262

  Bennett, Thomas M ^a   Shiels, Alan ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CONNEXIN 46; GENOMIC DNA; GUANINE; HEAT SHOCK PROTEIN; HEAT SHOCK PROTEIN 92; METHIONINE; UNCLASSIFIED DRUG; VALINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CAUCASIAN; CHROMOSOME 13Q; CLINICAL ARTICLE; CODON; COMPUTER MODEL; CONTROLLED STUDY; EXON; FAMILY STUDY; GENE; GENE MAPPING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RECOMBINATION; GENOTYPE; GJA3 GENE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; LEUKOCYTE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENESIS; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; RESTRICTION FRAGMENT; RESTRICTION MAPPING; RESTRICTION SITE; SEQUENCE ANALYSIS;

ALLELES; BASE SEQUENCE; CASE-CONTROL STUDIES; CATARACT; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; GENOTYPE; HAPLOTYPES; HUMANS; LENS, CRYSTALLINE; LOD SCORE; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; UNITED STATES;

EID: 80053032082     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (59)

1. Rahi JS, Dezateux C. Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK. Invest Ophthalmol Vis Sci 2001; 42:1444-8. [PMID: 11381045]
2. Zetterström C, Lundvall A, Kugelberg M. Cataracts in children. J Cataract Refract Surg 2005; 31:824-40. [PMID: 15899463]
3. Tatham A, Odedra N, Tayebjee S, Anwar S, Woodruff G. The incidence of glaucoma following paediatric cataract surgery: a 20-year retrospective study. Eye (Lond) 2010; 24:1366-75. [PMID: 20414259]
4. Shiels A, Hejtmancik JF. Genetic origins of cataract. Arch Ophthalmol 2007; 125:165-73. [PMID: 17296892]
5. Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 2008; 19:134-49. [PMID: 18035564]
6. Shiels A, Bennett TM, Hejtmancik JF. Cat-Map: putting cataract on the map. Mol Vis 2010; 16:2007-15. [PMID: 21042563]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. Bu L, Jin Y, Shi Y, Chu R, Ban A, Eiberg H, Andres L, Jiang H, Zheng G, Qian M, Cui B, Xia Y, Liu J, Hu L, Zhao G, Hayden MR, Kong X. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet 2002; 31:276-8. [PMID: 12089525]
19. Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat Genet 2000; 25:15-7. [PMID: 10802646]
20. Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am J Hum Genet 2002; 70:1363-7. [PMID: 11917274]
21. Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC, Donnai D, Black GC. Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. Hum Mutat 2007; 28:968-77. [PMID: 17492639]
22. Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Am J Hum Genet 2000; 66:1426-31. [PMID: 10729115]
23. Ramachandran RD, Perumalsamy V, Hejtmancik JF. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 2007; 121:475-82. [PMID: 17225135]
24. Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet 2007; 81:596-606. [PMID: 17701905]
25. Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF. The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol Vis 2008; 14:2042-55. [PMID: 19005574]
26. Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL. Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science 2011; 331:1571-6. [PMID: 21436445]
27. Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF. Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts. Am J Hum Genet 2011; 88:827-38. [PMID: 21636066]
28. Mackay DS, Andley UP, Shiels A. Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. Eur J Hum Genet 2003; 11:784-93. [PMID: 14512969]
29. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984; 81:3443-6. [PMID: 6587361]
30. Collins JS, Schwartz CE. Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet 2002; 71:1251-2. [PMID: 12452182]
31. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4:1073-81. [PMID: 19561590]
32. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7:248-9. [PMID: 20354512]
33. Chenna R, Sugawara H, Koike T, Lopez R, Gibson TJ, Higgins DG, Thompson JD. Multiple sequence alignment with the Clustal series of programs. Nucleic Acids Res 2003; 31:3497-500. [PMID: 12824352]
34. Tusnády GE, Simon I. The HMMTOP transmembrane topology prediction server. Bioinformatics 2001; 17:849-50. [PMID: 11590105]
35. Marchler-Bauer A, Anderson JB, Chitsaz F, Derbyshire MK, DeWeese-Scott C, Fong JH, Geer LY, Geer RC, Gonzales NR, Gwadz M, He S, Hurwitz DI, Jackson JD, Ke Z, Lanczycki CJ, Liebert CA, Liu C, Lu F, Lu S, Marchler GH, Mullokandov M, Song JS, Tasneem A, Thanki N, Yamashita RA, Zhang D, Zhang N, Bryant SH. CDD: specific functional annotation with the Conserved Domain Database. Nucleic Acids Res 2009; 37:D205-10. [PMID: 18984618]
36. 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]
37. 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]
38. 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]
39. Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM. A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. J Med Genet 2004; 41:e106. [PMID: 15286166]
40. 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]
41. Zhou Z, Wang B, Hu S, Zhang C, Ma X, Qi Y. Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study. Mol Vis 2011; 17:621-6. [PMID: 21386927]
42. Yoshida M, Harada Y, Kaidzu S, Ohira A, Masuda J, Nabika T. New genetic model rat for congenital cataracts due to a connexin 46 (Gja3) mutation. Pathol Int 2005; 55:732-7. [PMID: 16271086]
43. Gong X, Li E, Klier G, Huang Q, Wu Y, Lei H, Kumar NM, Horwitz J, Gilula NB. Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice. Cell 1997; 91:833-43. [PMID: 9413992]
44. Gong X, Agopian K, Kumar NM, Gilula NB. Genetic factors influence cataract formation in alpha 3 connexin knockout mice. Dev Genet 1999; 24:27-32. [PMID: 10079508]
45. Gong X, Baldo GJ, Kumar NM, Gilula NB, Mathias RT. Gap junctional coupling in lenses lacking alpha3 connexin. Proc Natl Acad Sci USA 1998; 95:15303-8. [PMID: 9860964]
46. Ebihara L, Tong JJ, Vertel B, White TW, Chen TL. Properties of connexin 46 hemichannels in dissociated lens fiber cells. Invest Ophthalmol Vis Sci 2011; 52:882-9. [PMID: 20861491]
47. Pal JD, Liu X, Mackay D, Shiels A, Berthoud VM, Beyer EC, Ebihara L. Connexin46 mutations linked to congenital cataract show loss of gap junction channel function. Am J Physiol Cell Physiol 2000; 279:C596-602. [PMID: 10942709]
48. Yao K, Wang W, Zhu Y, Jin C, Shentu X, Jiang J, Zhang Y, Ni S. A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family. Hum Mutat. 2011 10.1002/humu.21552 [PMID: 21681855]
49. 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]
50. Hansen L, Yao W, Eiberg H, Funding M, Riise R, Kjaer KW, Hejtmancik JF, Rosenberg T. The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46. Mol Vis 2006; 12:1033-9. [PMID: 16971895]
51. 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]
52. 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]
53. 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]
54. Ma ZW, Zheng JQ, Li J, Li XR, Tang X, Yuan XY, Zhang XM, Sun HM. Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract. Br J Ophthalmol 2005; 89:1535-7. [PMID: 16234473]
55. Yang G, Xing B, Liu G, Lu X, Jia X, Lu X, Wang X, Yu H, Fu Y, Zhao J. A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Mol Vis 2011; 17:1070-3. [PMID: 21552498]
56. Guleria K, Vanita V, Singh D, Singh JR. A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene. Mol Vis 2007; 13:797-803. [PMID: 17615540]
57. Rees MI, Watts P, Fenton I, Clarke A, Snell RG, Owen MJ, Gray J. Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). Hum Genet 2000; 106:206-9. [PMID: 10746562]
58. Ding X, Wang B, Luo Y, Hu S, Zhou G, Zhou Z, Wang J, Ma X, Qi Y. A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree. Mol Vis 2011; 17:1343-9. [PMID: 21647269]
59. Li Y, Wang J, Dong B, Man H. A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. Mol Vis 2004; 10:668-71. [PMID: 15448617]