Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin

Ophthalmic Research

Volumn 41, Issue 3, 2009, Pages 148-153

  Wang, Li ^a   Lin, Hui ^a   Gu, Jingzhi ^a   Su, Hong ^a   Huang, Shangzhi ^b   Qi, Yanhua ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

^b INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

Author keywords

Beta B2 crystallin gene; Congenital cataract; Gene conversion mutation; Linkage analysis

Indexed keywords

DNA; THYMINE; BETA CRYSTALLIN; BETA CRYSTALLIN B2; BETA-CRYSTALLIN B2;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CATARACT; GENE CONVERSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN STRUCTURE; ASIAN; CHINA; CHROMOSOME 22; DOMINANT GENE; FEMALE; GENETICS; MALE; MUTATION; PEDIGREE;

ASIAN CONTINENTAL ANCESTRY GROUP; BETA-CRYSTALLIN B CHAIN; CATARACT; CHINA; CHROMOSOMES, HUMAN, PAIR 22; DNA MUTATIONAL ANALYSIS; FEMALE; GENE CONVERSION; GENES, DOMINANT; GENOTYPE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MUTATION; PEDIGREE;

EID: 62849113081     PISSN: 00303747     EISSN: None     Source Type: Journal    
DOI: 10.1159/000209668     Document Type: Article

References (36)

1. 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.
2. 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; 105:168-170.
3. Ramachandran RD, Perumalsamy V, Hejtmancik JF: Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 2007; 121:475-482.
4. Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E: A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest Ophthalmol Vis Sci 2000;41:3511-3515.
5. 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;25:15-17.
6. 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;66:1426-1431.
7. Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, Dawson G, Carey AH, Moore A, Bhattacharya SS, Quinlan RA: Al-pha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet 2001; 69:1141-1145.
8. 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; 70:1363-1367.
9. 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 betaAl/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Hum Genet 2004; 114:192-197.
10. Smaoui N, Beltaief O, BenHamed S, M'Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF: A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 2004;45:2716-2721.
11. Li Y, Wang J, Dong B, Man H: A novel con-nexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. Mol Vis 2004; 10:668-671.
12. 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;71:1216-1221.
13. 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-crys-tallin gene CRYBB2. Hum Mol Genet 1997; 6:665-668.
14. Gill D, Klose R, Munier FL, McFadden M, Priston M, Billingsley G, Ducrey N, Schorderet DF, Heon E: Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci 2000;41:159-165.
15. Vanita V, Sarhadi V, Reis A, Jung M, Singh D, Sperling K, Singh JR, Burger J: A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J Med Genet 2001;38:392-396.
16. Yao K, Tang X, Shentu X, Wang K, Rao H, Xia K: Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family. Mol Vis 2005;11:758-763.
17. Santhiya ST, Manisastry SM, Rawlley D, Malathi R, Anishetty S, Gopinath PM, Vijayalakshmi P, Namperumalsamy P, Adamski J, Graw J: Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene. Invest Ophthalmol Vis Sci 2004;45: 3599-3607.
18. Bateman JB, von-Bischhoffshaunsen FR, Richter L, Flodman P, Burch D, Spence MA: Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Ophthalmology 2007; 114:425-432.
19. Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF: Mutations in beta-B3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci 2005;46:2100-2106.
20. Ren Z, Li A, Shastry BS, Padma T, Ayyagari R, Scott MH, Parks MM, Kaiser-Kupfer MI, Hejtmancik JF: A 5-base insertion in the gamma-C-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet 2000; 106:531-537.
21. Nandrot E, Slingsby C, Basak A, Cherif-Chefchaouni M, Benazzouz B, Hajaji Y, Boutayeb S, Gribouval O, Arbogast L, Berraho A, Abitbol M, Hilal L: Gamma-D crystalline gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. J Med Genet 2003;40:262-267.
22. Mackay DS, Andley UP, Shiels A: A missense mutation in the gamma-D crystallin gene (CRYGD) associated with autosomal dominant 'coral-like' cataract linked to chromosome 2q. Mol Vis 2004;10:155-162.
23. 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;42:706-710.
24. Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF: A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci 2004;45: 1940-1945.
25. Vanita V, Hejtmancik JF, Hennies HC, Guleria K, Nurnberg P, Singh D, Sperling K, Singh JR: Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. Mol Vis 2006; 12: 93-99.
26. Sidjanin DJ, McElwee J, Miller B, Aguirre GD: Cloning of canine galactokinase (GALK1) and evaluation as a candidate gene for hereditary cataracts in Labrador retrievers. Anim Genet 2005;36:265-266.
27. Vanita V, Singh D, Robinson PN, Sperling K, Singh JR: A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family. Am J Med Genet A 2006; 140:558-566.
28. Taylor D: The Doyne Lecture - congenital cataract: the history, the nature and the practice. Eye 1998;12:9-36.
29. Francis PJ, Berry V, Bhattacharya SS, Moore AT: The genetics of childhood cataract. J Med Genet 2000;37:481-488.
30. 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.
31. Vogt A: Die spezifitat auder borener und er-worbener starformer fur die einzelnen lin-sezouene. Albrecht Von Graefes Arch Clin Exp Ophthalmol 1922; 108:219-228.
32. Armitage MM, Kivlin JD, Ferrell RE: A progressive early onset cataract gene maps to human chromosome 17q24. Nat Genet 1995; 9:37-40.
33. Vanita V, Singh D, Robinson PN, Sperling K, Singh JR: A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family. Am J Med Genet A 2006;140:558-566.
34. Liu BF, Liang JJ: Interaction and biophysical propertis of human lens Q155*βB2-crystallin mutant. Mol Vis 2005;11:321-327.
35. Graw J, Loster J, Soewarto D, Fuchs H, Reis A, Wolf E, Balling R, Hrabe de Angelis M: Aey2, a new mutation in the betaB2-crystal-lin-encoding gene of the mouse. Invest Ophthalmol Vis Sci 2001;42:1574-1580.
36. Magabo KS, Horwitz J, Piatigorsky J, Kantorow M: Expression of betaB2-crystallin mRNA and protein in retina, brain, and testis. Invest Ophthalmol Vis Sci 2000;41: 3056-3060.