Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

Human Genetics

Volumn 132, Issue 7, 2013, Pages 761-770

  Reis, Linda M ^a   Tyler, Rebecca C ^a   Muheisen, Sanaa ^a   Raggio, Victor ^b   Salviati, Leonardo ^c   Han, Dennis P ^a   Costakos, Deborah ^a   Yonath, Hagith ^d   Hall, Sarah ^e   Power, Patricia ^f   Semina, Elena V ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b DEPARTAMENTO DE BIOQUÍMICA   (Uruguay)

^c UNIVERSITY OF PADOVA   (Italy)

^d TEL AVIV UNIVERSITY   (Israel)

^e Kadlec Regional Medical Center   (United States)

^f UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CRYSTALLIN;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CLINICAL ARTICLE; CRYAA GENE; CRYBA2 GENE; CRYBB1 GENE; CRYBB3 GENE; CRYGC GENE; CRYGD GENE; DNA SEQUENCE; EMBRYO; EYA1 GENE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GJA8 GENE; HUMAN; LENS; MIP GENE; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; WHOLE EXOME SEQUENCE; ZEBRA FISH;

ADULT; ALLELES; AMINO ACID SUBSTITUTION; ANIMALS; BETA-CRYSTALLIN A CHAIN; CATARACT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, DOMINANT; GENETIC DISEASES, INBORN; HUMANS; INFANT; MALE; MUTATION, MISSENSE; ZEBRAFISH; ZEBRAFISH PROTEINS;

DANIO RERIO;

EID: 84879499591     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1289-0     Document Type: Article

References (34)

1. Aldahmesh MA, Khan AO, Mohamed JY, Hijazi H, Al-Owain M, Alswaid A, Alkuraya FS (2012) Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet Med. doi: 10.1038/gim.2012.86
2. Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M (2000) Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet 9:363-366
3. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12:745-755. doi: 10.1038/nrg3031;10.1038/nrg3031
4. Bremond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV (2010) Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Mol Vis 16:1705-1711
5. Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM (2004) A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. J Med Genet 41:e106. doi: 10.1136/jmg.2004.018333
6. Choi BO, Koo SK, Park MH, Rhee H, Yang SJ, Choi KG, Jung SC, Kim HS, Hyun YS, Nakhro K, Lee HJ, Woo HM, Chung KW (2012) Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. Hum Mutat 33:1610-1615. doi: 10.1002/humu.22143
7. Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS (2007) Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 48:2208-2213. doi: 10.1167/iovs.06-1019
8. Gonzalez-Huerta L, Ramirez-Sanchez V, Rivera-Vega M, Messina-Baas O, Cuevas-Covarrubias S (2008) A family with hereditary hyperferritinaemia cataract syndrome: evidence of incomplete penetrance and clinical heterogeneity. Br J Haematol 143:596-598. doi: 10.1111/j.1365-2141.2008.07345.x
9. Graw J (2009) Genetics of crystallins: cataract and beyond. Exp Eye Res 88:173-189. doi: 10.1016/j.exer.2008.10.011
10. Graw J, Schmidt W, Minogue PJ, Rodriguez J, Tong JJ, Klopp N, Illig T, Ebihara L, Berthoud VM, Beyer EC (2009) The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation. Mol Vis 15:1881-1885
11. Hansen L, Eiberg H, Rosenberg T (2007a) Novel MAF mutation in a family with congenital cataract-microcornea syndrome. Mol Vis 13:2019-2022
12. Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T (2007b) Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci 48:3937-3944. doi: 10.1167/iovs.07-0013
13. Hawse JR, DeAmicis-Tress C, Cowell TL, Kantorow M (2005) Identification of global gene expression differences between human lens epithelial and cortical fiber cells reveals specific genes and their associated pathways important for specialized lens cell functions. Mol Vis 11:274-283
14. He W, Li X, Chen J, Xu L, Zhang F, Dai Q, Cui H, Wang DM, Yu J, Hu S, Lu S (2011) Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract. Ophthalmic Genet 32:48-53. doi: 10.3109/13816810.2010.535886
15. Hejtmancik JF (2008) Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 19:134-149. doi: 10.1016/j.semcdb.2007.10.003
16. Holbrook JA, Neu-Yilik G, Hentze MW, Kulozik AE (2004) Nonsense-mediated decay approaches the clinic. Nat Genet 36:801-808. doi: 10.1038/ng1403
17. Huang B, He W (2010) Molecular characteristics of inherited congenital cataracts. Eur J Med Genet 53:347-357. doi: 10.1016/j.ejmg.2010.07.001
18. Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S (2010) Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis 16:511-517
19. Khajavi M, Inoue K, Lupski JR (2006) Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 14:1074-1081. doi: 10.1038/sj.ejhg.5201649
20. Meyer E, Rahman F, Owens J, Pasha S, Morgan NV, Trembath RC, Stone EM, Moore AT, Maher ER (2009) Initiation codon mutation in betaB 1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. Mol Vis 15:1014-1019
21. Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ (2008) Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat 29:537-544. doi: 10.1002/humu.20691
22. Polyakov AV, Shagina IA, Khlebnikova OV, Evgrafov OV (2001) Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Clin Genet 60:476-478
23. Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E (2000) A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest Ophthalmol Vis Sci 41:3511-3515
24. Puk O, Ahmad N, Wagner S, Hrabe de Angelis M, Graw J (2011) First mutation in the betaA2-crystallin encoding gene is associated with small lenses and age-related cataracts. Invest Ophthalmol Vis Sci 52:2571-2576. doi: 10.1167/iovs.10-6443
25. Ren Z, Li A, Shastry BS, Padma T, Ayyagari R, Scott MH, Parks MM, Kaiser-Kupfer MI, Hejtmancik JF (2000) A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet 106:531-537
26. Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF (2005) Mutations in betaB 3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci 46:2100-2106. doi: 10.1167/iovs.04-1481
27. Sacconi S, Feasson L, Antoine JC, Pecheux C, Bernard R, Cobo AM, Casarin A, Salviati L, Desnuelle C, Urtizberea A (2012) A novel CRYAB mutation resulting in multisystemic disease. Neuromuscul Disord 22:66-72. doi: 10.1016/j.nmd.2011.07.004
28. Santana A, Waiswol M, Arcieri ES, Cabral de Vasconcellos JP, Barbosa de Melo M (2009) Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. Mol Vis 15:793-800
29. Shiels A, Bennett TM, Hejtmancik JF (2010) Cat-Map: putting cataract on the map. Mol Vis 16:2007-2015
30. Slingsby C, Clout NJ (1999) Structure of the crystallins. Eye (Lond) 13(Pt 3b):395-402. doi: 10.1038/eye.1999.113
31. Smelser GK (1965) Embryology and morphology of the lens. Invest Ophthalmol 4:398-410
32. Sorokina EA, Muheisen S, Mlodik N, Semina EV (2011) MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens. PLoS ONE 6:e21122. doi: 10.1371/journal.pone.0021122
33. Trumler AA (2011) Evaluation of pediatric cataracts and systemic disorders. Curr Opin Ophthalmol 22:365-379. doi: 10.1097/ICU.0b013e32834994dc
34. Wang KJ, Wang S, Cao NQ, Yan YB, Zhu SQ (2011) A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the betaB 1/betaA3-crystallin heteromer but not the betaB 1-crystallin homomer. Hum Mutat 32:E2050-E2060. doi: 10.1002/humu.21436