Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus

Molecular Vision

Volumn 17, Issue , 2011, Pages 481-485

  Paliwal, Preeti ^a   Tandon, Radhika ^b   Dube, Divya ^a   Kaur, Punit ^a   Sharma, Arundhati ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HOMEODOMAIN PROTEIN; UNCLASSIFIED DRUG; VISUAL SYSTEM HOMEOBOX 1 PROTEIN;

ADULT; ARTICLE; BLOOD SAMPLING; CHROMOSOME BAND; CLINICAL ARTICLE; CLINICAL EXAMINATION; FEMALE; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC IDENTIFICATION; HUMAN; KERATOCONUS; MALE; MOLECULAR BIOLOGY; MOLECULAR GENETICS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; VERNAL CONJUNCTIVITIS;

ADOLESCENT; CHROMOSOME SEGREGATION; EYE PROTEINS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; KERATOCONUS; MALE; MODELS, MOLECULAR; MUTATION; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; YOUNG ADULT;

EID: 79952170017     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Krachmer JH, Feder RS, Belin MW. Keratoconus and related non inflammatory corneal thinning disorders. Surv Ophthalmol 1984; 28:293-322. [PMID: 6230745]
2. Jafri B, Lichter H, Stulting RD. Asymmetric keratoconus attributed to eye rubbing. Cornea 2004; 23:560-4. [PMID: 15256993]
3. Lindsay RG, Bruce AS, Gutteridge IF. Keratoconus associated with continual eye rubbing due to punctal agenesis. Cornea 2000; 19:567-9. [PMID: 10928781]
4. Macsai MS, Varley GA, Krachmer JH. Development of keratoconus after contact lens wear. Patient characteristics. Arch Ophthalmol 1990; 108:534-8. [PMID: 2322155]
5. Sharma R, Titiyal JS, Prakash G, Sharma N, Tandon R, Vajpayee RB. Clinical profile and risk factors for keratoplasty and development of hydrops in north Indian patients with keratoconus. Cornea 2009; 28:367-70. [PMID: 19411952]
6. Freedman J, Gombos GM. Bilateral macular coloboma, keratoconus, and retinitis pigmentosa. Ann Ophthalmol 1971; 3:664-5. [PMID: 5164435]
7. McMahon TT, Kim LS, Fishman GA, Stone EM, Zhao XC, Yee RW, Malicki J. CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci 2009; 50:3185-7. [PMID: 19407021]
8. Grünauer-Kloevekorn C, Duncker GI. Keratoconus: epidemiology, risk factors and diagnosis. Klin Monatsbl Augenheilkd 2006; 223:493-502. [PMID: 16804819]
9. Bonini S, Coassin M, Aronni S, Lambiase A. Vernal keratoconjunctivitis. Eye 2004; 18:345-51. [PMID: 15069427]
10. Totan Y, Hep B, Cekic O, Gündüz A, Aydin E. Incidence of keratoconus in subjects with vernal keratoconjunctivitis: A videokeratographic study. Ophthalmology 2001; 108:824-7. [PMID: 11305286]
11. 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]
12. Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, 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]
13. 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]
14. 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]
15. Wiederstein M, Sippl MJ. ProSA-web: interactive web service for the recognition of errors in three-dimensional structures of proteins. Nucleic Acids Res 2007; 35:407-10. [PMID: 17517781]