A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree

Molecular Vision

Volumn 16, Issue , 2010, Pages 154-160

  Gu, Zhensheng ^a   Ji, Baohu ^b   Wan, Chunling ^b   He, Guang ^b   Zhang, Juan ^b   Zhang, Ming ^b   Feng, Guoyin ^b   He, Lin ^b,c,d   Gao, Linghan ^b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

^d FUDAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN; BETA CRYSTALLIN; CRYSTALLIN BETA A1; CRYSTALLIN BETA A3; UNCLASSIFIED DRUG; CRYBA1 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CATARACT EXTRACTION; CHINESE; CLINICAL ARTICLE; COMPUTER PROGRAM; CONGENITAL CATARACT; CONGENITAL DISORDER; CONTROLLED STUDY; DNA DETERMINATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; LENS IMPLANTATION; LINKAGE ANALYSIS; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SLIT LAMP; VISUAL ACUITY; ADULT; ASIAN; CATARACT; CHINA; CHROMOSOME 17; DOMINANT GENE; FEMALE; GENETIC LINKAGE; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; PEDIGREE; RNA SPLICING;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BETA-CRYSTALLIN A CHAIN; CATARACT; CHINA; CHROMOSOMES, HUMAN, PAIR 17; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RNA SPLICE SITES;

EID: 77949322638     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 2004; 49:300-315. [PMID: 15110667]
2. Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 2008; 19:134-149. [PMID: 18035564]
3. Ionides AC, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A. A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum Mol Genet 1997; 6:47-51. [PMID: 9002669]
4. 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; 14:2042-2055. [PMID: 19005574]
5. Zhang T, Hua R, Xiao W, Burdon KP, Bhattacharya SS, Craig JE, Shang D, Zhao X, Mackey DA, Moore AT, Luo Y, Zhang J, Zhang X. Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat 2009; 30:E603-E611. [PMID: 19306328]
6. 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; 69:1141-1145. [PMID: 11577372]
7. Liu M, Ke T, Wang Z, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Wang T, Li Q, Yang J, Liu J, Wang QK. Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. Invest Ophthalmol Vis Sci 2006; 47:3461-3466. [PMID: 16877416]
8. 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]
9. Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet 1998; 19:167-170. [PMID: 9620774]
10. Berry V, Yang Z, Addison PK, Francis PJ, Ionides A, Karan G, Jiang L, Lin W, Hu J, Yang R, Moore A, Zhang K, Bhattacharya SS. Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). J Med Genet 2004; 41:e109. [PMID: 15286169]
11. Addison PK, Berry V, Ionides AC, Francis PJ, Bhattacharya SS, Moore AT. Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene. Br J Ophthalmol 2005; 89:138-141. [PMID: 15665340]
12. Burdon KP, McKay JD, Wirth MG, Russell-Eggit IM, Bhatti S, Ruddle JB, Dimasi D, Mackey DA, Craig JE. The PITX3 gene in posterior polar congenital cataract in Australia. Mol Vis 2006; 12:367-371. [PMID: 16636655]
13. Pras E, Mahler O, Kumar V, Frydman M, Gefen N, Pras E, Hejtmancik JF. A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23. J Med Genet 2006; 43:e50. [PMID: 17047090]
14. Maumenee IH. Classification of hereditary cataracts in children by linkage analysis. Ophthalmology 1979; 86:1554-1558. [PMID: 121767]
15. 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]
16. Mothobi ME, Guo S, Liu Y, Chen Q, Yussuf AS, Zhu X, Fang Z. Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2. Mol Vis 2009; 15:1470-1475. [PMID: 19649175]
17. Graw J. Genetics of crystallins: cataract and beyond. Exp Eye Res 2009; 88:173-189. [PMID: 19007775]
18. Takata T, Oxford JT, Brandon TR, Lampi KJ. Deamidation alters the structure and decreases the stability of human lens betaA3-crystallin. Biochemistry 2007; 46:8861-8871. [PMID: 17616172]
19. 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; 13:945-953. [PMID: 15016766]
20. 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; 114:192-197. [PMID: 14598164]
21. 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; 45:1436-1441. [PMID: 15111599]
22. Lu S, Zhao C, Jiao H, Kere J, Tang X, Zhao F, Zhang X, Zhao K, Larsson C. Two Chinese families with pulverulentcongenital cataracts and deltaG91 CRYBA1 mutations. Mol Vis 2007; 13:1154-1160. [PMID: 17653060]
23. 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]
24. 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; 14:1157-1170. [PMID: 18587492]
25. 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; 41:3278-3285. [PMID: 11006214]