Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family

Molecular Vision

Volumn 18, Issue , 2012, Pages 203-210

  Zhang, Xiaohui ^a   Wang, Lina ^b   Wang, Jun ^a   Dong, Bing ^a   Li, Yang ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CONNEXIN 46; GENOMIC DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BETA SHEET; CHINESE; CLINICAL EXAMINATION; CONGENITAL CATARACT; CONNEXIN 46 GENE; CONTROLLED STUDY; DNA EXTRACTION; DNA POLYMORPHISM; DNA SEQUENCE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC MARKER; GENETIC SCREENING; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; LINKAGE ANALYSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN SECONDARY STRUCTURE; SEQUENCE ALIGNMENT;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CATARACT; CHROMOSOMES, HUMAN, PAIR 13; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; GENOTYPE; HUMANS; LOD SCORE; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY;

EID: 84863012137     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Francis PJ, Berry V, Bhattacharya SS, Moore AT. The genetics of childhood cataract. J Med Genet 2000; 37:481-8.[PMID: 10882749]
2. Reddy MA, Francis PJ, Berry V, Bhasttacharya 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. Pfenniger A, Wohlwend A, Kwak BR. Mutations in connexin genes and disease. Eur J Clin Invest 2011; 41:103-16.[PMID: 20840374]
5. Mathias RT, White TW, Gong X. Lens gap junctions in growth, and homeostasis differentiation. Physiol Rev 2010; 90:179-206.[PMID: 20086076]
6. Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S. Connexin 46 mutations in autosomal dominant congenital cataract. Am J Hum Genet 1999; 64:1357-64.[PMID: 10205266]
7. Rees MI, Watts P, Fenton I, Clarke A, Snell RG, Owen MJ, Gray J. Further evidence of autosomal dominant congenital zonular cataracts linked to 13q11 (CZP3) and a novel mutation and a novel mutation in connexin 46 (GJA3). Hum Genet 2000; 106:206-9.[PMID: 10746562]
8. Jiang H, Jin Y, Bu L, Zhang W, Liu J, Cui B, Kong X, Hu L. A novel mutation in GJA3 (connexin 46) for autosomal dominant congenital nuclear pulverulent cataract. Mol Vis 2003; 9:579-83.[PMID: 14627959]
9. Bennett TM, Mackay DS, Knopf HLS. Shiels A. A novel missense mutation in the gene for gap junction protein (GJA3) associated with autosomal dominant "nuclear punctate"cataracts linked to chromosome 13q. Mol Vis 2004; 10:376-82.[PMID: 15208569]
10. Li Y, Wang J, Dong B, Man H. A connexin 46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. Mol Vis 2004; 10:668-71.[PMID: 15448617]
11. 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]
12. 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]
13. Ma ZW, Ma Z, 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]
14. 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]
15. 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 connexin 46. Mol Vis 2006; 12:1033-9.[PMID: 16971895]
16. 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]
17. 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]
18. 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]
19. 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 (connexin 46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Mol Vis 2011; 17:1070-3[PMID: 21552498]
20. 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]
21. Maltese P, Canestrari E, Palmaa L, Ruzzo A, Corini F, Menotta M, Andreonic F, Latiano A, Annese V, Magnani M. Highresolution melting (HRM) analysis for the detection of ER22/23EK, BclI, and N363S polymorphisms of the glucocorticoid receptor gene. J Steroid Biochem Mol Biol 2009; 113:269-74.[PMID: 19429432]
22. Garnier J, Gibrat JF, Robson B. GOR method for predicting protein secondary structure from amino acid sequence. Methods Enzymol 1996; 266:540-53.[PMID: 8743705]
23. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30:3894-900.[PMID: 12202775]
24. Pal JD, Liu X, Mackay D, Shiels A, Berthoud VM, Beyer EC, Ebihara L. Connexin 46 mutations linked to congenital cataract show loss of gap junction channel function. Am J Physiol Cell Physiol 2000; 279:C596-602.[PMID: 10942709]
25. Mackay DS, Andley UP, Shiels A. A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q. Mol Vis 2004; 10:155-62.[PMID: 15041957]
26. Xu WZ, Zheng S, Xu SJ, Huang W, Yao K, Zhang SZ. Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin gene. Chin Med J (Engl) 2004; 117:727-32.[PMID: 15161542]
27. Khan AO, Aldahmesh MA, Ghadhfan FE. Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families. Mol Vis 2009; 15:1407-11.[PMID: 19633732]
28. Yang G, Xiong C, Li S, Wang Y, Zhao J. A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families. Mol Vis 2011; 17:1085-9.[PMID: 21552497]
29. Gu F, Li R, Ma XX, Shi LS, Huang SZ, Ma X. A missense mutation in the? D-crystallin gene GRYGD associated with autosomal dominant congenital cataract in a Chinese family. Mol Vis 2006; 12:26-31.[PMID: 16446699]
30. Li F, Wang S, Cao C, Liu S, Zhao B, Zhang M, Huang S, Zhu S, Ma X. Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts. Mol Vis 2008; 14:378-86.[PMID: 18334953]