Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract

Molecular Vision

Volumn 17, Issue , 2011, Pages 2380-2385

  Wang, Li ^a   Luo, Yi ^a   Wen, Wen ^a   Zhang, Shenghai ^a   Lu, Yi ^a  

^a EYE AND ENT HOSPITAL OF FUDAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; ASPARTIC ACID; CONNEXIN 26; GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN ALPHA 8; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT CONGENITAL CATARACT; CHINESE; CLINICAL ARTICLE; CODON; CONGENITAL CATARACT; CONTROLLED STUDY; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GJA8 GENE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN STRUCTURE; SEQUENCE HOMOLOGY;

ASIAN CONTINENTAL ANCESTRY GROUP; ASPARAGINE; ASPARTIC ACID; CASE-CONTROL STUDIES; CATARACT; CONNEXINS; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; HUMANS; MALE; MODELS, MOLECULAR; MUTANT PROTEINS; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; THERMODYNAMICS;

EID: 80053032947     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (44)

1. Bassnett S, Beebe DC. Coincident loss of mitochondria and nuclei during lens fiber cell differentiation. Dev Dyn 1992; 194:85-93. [PMID: 1421526]
2. Mathias RT, Rae JL, Baldo GJ. Physiological properties of the normal lens. Physiol Rev 1997; 77:21-50. [PMID: 9016299]
3. Willecke K, Eiberger J, Degen J, Eckardt D, Romualdi A, Güldenagel M, Deutsch U, Söhl G. Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem 2002; 383:725-37. [PMID: 12108537]
4. Gerido DA, White TW. Connexin disorders of the ear, skin, and lens. Biochim Biophys Acta 2004; 1662:159-70. [PMID: 15033586]
5. Dehouck Y, Grosfils A, Folch B, Gilis D, Bogaerts P, Rooman M. Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0. Bioinformatics 2009; 25:2537-43. [PMID: 19654118]
6. Arnold K, Bordoli L, Kopp J, Schwede T. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 2006; 22:195-201. [PMID: 16301204]
7. 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]
8. 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]
9. 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]
10. Ramachandran RD, Perumalsamy V, Hejtmancik JF. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 2007; 121:475-82. [PMID: 17225135]
11. 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]
12. 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]
13. Beyer EC, Paul DL, Goodenough DA. Connexin43: a protein from rat heart homologous to a gap junction protein from liver. J Cell Biol 1987; 105:2621-9. [PMID: 2826492]
14. Paul DL, Ebihara L, Takemoto LJ, Swenson KI, Goodenough DA. Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes. J Cell Biol 1991; 115:1077-89. [PMID: 1659572]
15. White TW, Bruzzone R, Goodenough DA, Paul DL. Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70. Mol Biol Cell 1992; 3:711-20. [PMID: 1325220]
16. 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]
17. Rong P, Wang X, Niesman I, Wu Y, Benedetti LE, Dunia I, Levy E, Gong X. Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation. Development 2002; 129:167-74. [PMID: 11782410]
18. Gong X, Cheng C, Xia CH. Connexins in lens development and cataractogenesis. J Membr Biol 2007; 218:9-12. [PMID: 17578632]
19. White TW. Unique and redundant connexin contributions to lens development. Science 2002; 295:319-20. [PMID: 11786642]
20. Baldo GJ, Gong X, Martinez-Wittinghan FJ, Kumar NM, Gilula NB, Mathias RT. Gap junctional coupling in lenses from alpha(8) connexin knockout mice. J Gen Physiol 2001; 118:447-56. [PMID: 11696604]
21. 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]
22. Martinez-Wittinghan FJ, Sellitto C, White TW, Mathias RT, Paul D, Goodenough DA. Lens gap junctional coupling is modulated by connexin identity and the locus of gene expression. Invest Ophthalmol Vis Sci 2004; 45:3629-37. [PMID: 15452070]
23. Xu X, Ebihara L. Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract. Invest Ophthalmol Vis Sci 1999; 40:1844-50. [PMID: 10393059]
24. Arora A, Minogue PJ, Liu X, Addison PK, Russel-Eggitt I, Webster AR, Hunt DM, Ebihara L, Beyer EC, Berthoud VM, Moore AT. A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet 2008; 45:155-60. [PMID: 18006672]
25. 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]
26. Pal JD, Berthoud VM, Beyer EC, Mackay D, Shiels A, Ebihara L. Molecular mechanism underlying a Cx50-linked congenital cataract. Am J Physiol 1999; 276:C1443-6. [PMID: 10362609]
27. Berry V, Mackay D, Khaliq S, Francis PJ, Hameed A, Anwar K, Mehdi SQ, Newbold RJ, Ionides A, Shiels A, Moore T, Bhattacharya SS. Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. Hum Genet 1999; 105:168-70. [PMID: 10480374]
28. Polyakov AV, Shagina IA, Khlebnikova OV, Evgrafov OV. Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Clin Genet 2001; 60:476-8. [PMID: 11846744]
29. Graw J, Schmidt W, Minogue PJ, Rodriguez J, Tong JJ, Klopp N, Illig T, Ebihara L, Berthoud VM, Beyer EC. The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation. Mol Vis 2009; 15:1881-5. [PMID: 19756179]
30. Willoughby CE, Arab S, Gandhi R, Zeinali S, Arab S, Luk D, Billingsley G, Munier FL, Héon E. A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. J Med Genet 2003; 40:e124. [PMID: 14627691]
31. 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]
32. 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]
33. Vanita V, Singh JR, Singh D, Varon R, Sperling K. A mutation in GJA8 (p. P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin. Mol Vis 2008; 14:1171-5. [PMID: 18587493]
34. Devi RR, Vijayalakshmi P. Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. Mol Vis 2006; 12:190-5. [PMID: 16604058]
35. Vanita V, Hennies HC, Singh D, Nürnberg 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]
36. 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]
37. 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]
38. 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]
39. Lin Y, Liu NN, Lei CT, Fan YC, Liu XQ, Yang Y, Wang JF, Liu B, Yang ZL. A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008; 25:59-62. [PMID: 18247306]
40. 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]
41. Vanita V, Singh JR, Singh D, Varon R, Sperling K. A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. Mol Vis 2008; 14:323-6. [PMID: 18334946]
42. Wang K, Wang B, Wang J, Zhou S, Yun B, Suo P, Cheng J, Ma X, Zhu S. A novel GJA8 mutation (p. I31T) causing autosomal dominant congenital cataract in a Chinese family. Mol Vis 2009; 15:2813-20. [PMID: 20019893]
43. Hu S, Wang B, Zhou Z, Zhou G, Wang J, Ma X, Qi Y. A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. Mol Vis 2010; 16:1585-92. [PMID: 20806042]
44. Gao X, Cheng J, Lu C, Li X, Li F, Liu C, Zhang M, Zhu S, Ma X. A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dominant congenital nuclear cataract in a Chinese family. Curr Eye Res 2010; 35:597-604. [PMID: 20597646]