Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus

Molecular Vision

Volumn 17, Issue , 2011, Pages 3128-3136

  Saee Rad, Samira ^a   Hashemi, Hassan ^b,c   Miraftab, Mohammad ^c   Noori Daloii, Mohammad Reza ^a   Chaleshtori, Morteza Hashemzadeh ^d   Raoofian, Reza ^a   Jafari, Fatemeh ^c   Greene, Wayne ^e   Fakhraie, Ghasem ^b   Rezvan, Farhad ^c   Heidari, Mansour ^a  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c NOOR EYE HOSPITAL   (Iran)

^d SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e MURDOCH UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

AMPLIFICATION REFRACTORY MUTATION SYSTEM POLYMERASE CHAIN REACTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; CONTROLLED STUDY; DNA EXTRACTION; EXON; FAMILY STUDY; FEMALE; GENE; GENE AMPLIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE; HUMAN; INTRON; IRAN; KERATOCONUS; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; SUPEROXIDE DISMUTASE 1 GENE; VISUAL SYSTEM HOMEOBOX GENE 1; WILD TYPE;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; IRAN; KERATOCONUS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; SUPEROXIDE DISMUTASE; TANDEM REPEAT SEQUENCES;

EID: 83055170839     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Leal SM, Bejjani BA. Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci 2009; 50:1531-9. [PMID: 19011015]
2. Stabuc-Silih M, Ravnik-Glavac M, Glavac D, Hawlina M, Strazisar M. Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus. Mol Vis 2009; 15:2848-60. [PMID: 20029656]
3. Abu-Amero KK, Kalantan H, Al-Muammar AM. Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia. Mol Vis 2011; 17:667-72. [PMID: 21403853]
4. Paliwal P, Singh A, Tandon R, Titiyal JS, Sharma A. A novel VSX1 mutation identified in an individual with keratoconus in India. Mol Vis 2009; 15:2475-9. [PMID: 19956409]
5. Rabinowitz YS. The genetics of keratoconus. Ophthalmol Clin North Am 2003; 16:607-20. [PMID: 14741001]
6. Romero-Jiménez M, Santodomingo-Rubido J, Wolffsohn JS. Keratoconus: a review. Cont Lens Anterior Eye 2010; 33:157-66. [PMID: 20537579]
7. Newsome DAFJ, Hassell JR, Krachmer JH, Rodrigues MM, Katz SI. Detection of specific collagen types in normal and keratoconus corneas. Invest Ophthalmol Vis Sci 1981; 20:738-50. [PMID: 7016805]
8. Wang Y, Rotter JI, Yang H. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet 2000; 93:403-9. [PMID: 10951465]
9. Bisceglia L, De Bonis P, Pizzicoli C, Fischetti L, Laborante A, Di Perna M, Giuliani F, Delle Noci N, Buzzonetti L, Zelante L. Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci. Invest Ophthalmol Vis Sci 2009; 50:1081-6. [PMID: 18978346]
10. Cullen JF. Mongolism (Down's Syndrome) and keratoconus. Br J Ophthalmol 1963; 47:321-30. [PMID: 14189698]
11. Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 2002; 11:1029-36. [PMID: 11978762]
12. Tyynismaa H, Sistonen P, Tuupanen S, Tervo T, Dammert A, Latvala T, Alitalo T. A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. Invest Ophthalmol Vis Sci 2002; 43:3160-4. [PMID: 12356819]
13. Brancati F, Valente EM, Sarkozy A, Feher J, Castori M, Del Duca P, Mingarelli R, Pizzuti A, Dallapiccola B. A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. J Med Genet 2004; 41:188-92. [PMID: 14985379]
14. Hutchings H, Ginisty H, Le Gallo M, Levy D, Stoesser F, Rouland JF, Arne JL, Lalaux MH, Calvas P, Roth MP, Hovnanian A, Malecaze F. Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet 2005; 42:88-94. [PMID: 15635082]
15. Dash DP, Silvestri G, Hughes AE. Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis. Mol Vis 2006; 12:499-505. [PMID: 16735990]
16. Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci 2003; 44:5063-6. [PMID: 14638698]
17. Tang YG, Rabinowitz YS, Taylor KD, Li X, Hu M, Picornell Y, Yang H. Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1. Genet Med 2005; 7:397-405. [PMID: 16024971]
18. Bisceglia L, Ciaschetti M, De Bonis P, Campo PAP, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. Invest Ophthalmol Vis Sci 2005; 46:39-45. [PMID: 15623752]
19. Dash DP, George S, O'Prey D, Burns D, Nabili S, Donnelly U, Hughes AE, Silvestri G, Jackson J, Frazer D, Heon E, Willoughby CE. Mutational screening of VSX1 in keratoconus patients from the European population. Eye (Lond) 2010; 24:1085-92. [PMID: 19763142]
20. Mok J-W, Baek S-J, Joo C-K. VSX1 gene variants are associated with keratoconus in unrelated Korean patients. J Hum Genet 2008; 53:842-9. [PMID: 18626569]
21. Tang YG, Picornell Y, Su X, Li X, Yang H, Rabinowitz YS. Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. Cornea 2008; 27:189-92. [PMID: 18216574]
22. Udar N, Atilano SR, Brown DJ, Holguin B, Small K, Nesburn AB, Kenney MC. SOD1: a candidate gene for keratoconus. Invest Ophthalmol Vis Sci 2006; 47:3345-51. [PMID: 16877401]
23. Udar N, Atilano SR, Small K, Nesburn AB, Kenney MC. SOD1 haplotypes in familial keratoconus. Cornea 2009; 28:902-7. [PMID: 19654524]
24. Héon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, Taylor CM, Krachmer JH, Sheffield VC, Stone EM. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet 1995; 4:485-8. [PMID: 7795607]
25. Saffari M, Dinehkabodi OS, Ghaffari SH, Modarressi MH, Mansouri F, Heidari M. Identification of novel p53 target genes by cDNA AFLP in glioblastoma cells. Cancer Lett 2009; 273:316-22. [PMID: 18814959]
26. Semina EV, Mintz-Hittner HA, Murray JC. Isolation and characterization of a novel human paired-like homeodomaincontaining transcription factor gene, VSX1, expressed in ocular tissues. Genomics 2000; 63:289-93. [PMID: 10673340]
27. Grünauer-Kloevekorn C, Duncker GI. Keratoconus: epidemiology, risk factors and diagnosis. Klin Monatsbl Augenheilkd 2006; 223:493-502. [PMID: 16804819]
28. Tanwar M, Kumar M, Nayak B, Pathak D, Sharma N, Titiyal JS, Dada R. VSX1 gene analysis in keratoconus. Mol Vis 2010; 16:2395-401. [PMID: 21139977]
29. Valleix S, Nedelec B, Rigaudiere F, Dighiero P, Pouliquen Y, Renard G, Le Gargasson JF, Delpech M. H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. Invest Ophthalmol Vis Sci 2006; 47:48-54. [PMID: 16384943]
30. Cozma I, Atherley C, James NJ. Influence of ethnic origin on the incidence of keratoconus and associated atopic disease in Asian and white patients. Eye (Lond) 2005; 19:924-5. [PMID: 15389278]
31. Pearson AR, Soneji B, Sarvananthan N, Sandford-Smith JH. Does ethnic origin influence the incidence or severity of keratoconus? Eye (Lond) 2000; 14:625-8. [PMID: 11040911]
32. Aldave AJ, Yellore VS, Salem AK, Yoo GL, Rayner SA, Yang H, Tang GY, Piconell Y, Rabinowitz YS. No VSX1 gene mutations associated with keratoconus. Invest Ophthalmol Vis Sci 2006; 47:2820-2. [PMID: 16799019]
33. Stabuc-Silih M, Strazisar M, Hawlina M, Glavac D. Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus. Cornea 2010; 29:172-6. [PMID: 20023586]
34. Dorval KM, Bobechko BP, Ahmad KF, Bremner R. Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1. J Biol Chem 2005; 280:10100-8. [PMID: 15647262]