A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family

Molecular Vision

Volumn 18, Issue , 2012, Pages 1283-1288

  Yang, Zhenfei ^a   Su, Dongmei ^b   Li, Qian ^b   Yang, Fan ^a   Ma, Zicheng ^a   Zhu, Siquan ^a   Ma, Xu ^b,c  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^c WHO Collaborative Center for Research in Human Reproduction   (China)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; CRYBA1/A3 GENE; DISEASE CLASSIFICATION; DNA SEQUENCE; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RNA SPLICING; SLIT LAMP; SPLICE SITE MUTATION;

ALTERNATIVE SPLICING; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BETA-CRYSTALLIN A CHAIN; CASE-CONTROL STUDIES; CATARACT; GENES, DOMINANT; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 84863323345     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Francis PJ, Berry V, Bhattacharya SS, Moore AT. The genetics of childhood cataract. J Med Genet 2000; 37:481-8. [PMID: 10882749]
2. Rahi JS, Dezateux C. Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group. Invest Ophthalmol Vis Sci 2000; 41:2108-14. [PMID: 10892851]
3. Santana A, Waiswo M. The genetic and molecular basis of congenital cataract. Arq Bras Oftalmol 2011; 74:136-42. [PMID: 21779674]
4. Ionides A, Francis P, Berry V, Mackay D, Bhattacharya S, Shiels A, Moore A. Clinical and genetic heterogeneity in autosomal dominant cataract. Br J Ophthalmol 1999; 83:802-8. [PMID: 10381667]
5. 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]
6. Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 2008; 19:134-49. [PMID: 18035564]
7. Graw J. Genetics of crystallins: cataract and beyond. Exp Eye Res 2009; 88:173-89. [PMID: 19007775]
8. Hejtmancik JF. The genetics of cataract: our vision becomes clearer. Am J Hum Genet 1998; 62:520-5. [PMID: 9497271]
9. Horwitz J. Alpha-crystallin can function as a molecular chaperone. Proc Natl Acad Sci USA 1992; 89:10449-53. [PMID: 1438232]
10. Ma B, Sen T, Asnaghi L, Valapala M, Yang F, Hose S, McLeod DS, Lu Y, Eberhart C, Zigler JS Jr, Sinha D. betaA3/A1-Crystallin controls anoikis-mediated cell death in astrocytes by modulating PI3K/AKT/mTOR and ERK survival pathways through the PKD/Bit1-signaling axis. Cell Death Dis 2011; 2:e217. [PMID: 21993393]
11. Wistow G, Turnell B, Summers L, Slingsby C, Moss D, Miller L, Lindley P, Blundell T. X-ray analysis of the eye lens protein gamma-II crystallin at 1.9 A resolution. J Mol Biol 1983; 170:175-202. [PMID: 6631960]
12. Hogg D, Tsui LC, Gorin M, Breitman ML. Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily. J Biol Chem 1986; 261:12420-7. [PMID: 3745196]
13. Werten PJ, Carver JA, Jaenicke R, de Jong WW. The elusive role of the N-terminal extension of beta A3-and beta A1-crystallin. Protein Eng 1996; 9:1021-8. [PMID: 8961355]
14. 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]
15. 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]
16. 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]
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. 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]
19. Yang Z, Li Q, Ma Z, Guo Y, Zhu S, Ma X. A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family. Mol Vis 2011; 17:2065-71. [PMID: 21850182]
20. Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992; 90:41-54. [PMID: 1427786]