Keratoconus is not associated with mutations in COL8A1 and COL8A2

Cornea

Volumn 26, Issue 8, 2007, Pages 963-965

  Aldave, Anthony J ^a   Bourla, Nirit ^a   Yellore, Vivek S ^a   Rayner, Sylvia A ^a   Khan, M Ali ^a   Salem, Andrew K ^a   Sonmez, Baris ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

Author keywords

COL8A1; COL8A2; Corneal ectasia; Keratoconus; Keratoglobus

Indexed keywords

ALANINE; ARGININE; GLYCINE; LEUCINE; PROLINE; VALINE;

ADULT; ARTICLE; CONTROLLED STUDY; CORNEA DISEASE; DISEASE ASSOCIATION; DNA EXTRACTION; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; KERATOCONUS; KERATOGLOBUS; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; COLLAGEN TYPE VIII; DNA MUTATIONAL ANALYSIS; FEMALE; GENE AMPLIFICATION; HUMANS; KERATOCONUS; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 34548268691     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICO.0b013e31811dfaf7     Document Type: Article

References (25)

1. Rabinowitz YS. Keratoconus. SurvOphthalmol. 1998;42:297-319.
2. Hughes AE, Dash DP, Jackson AJ, et al. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci. 2003;44:5063-5066.
3. Tyynismaa H, Sistonen P, Tuupanen S, et al. A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. Invest Ophthalmol Vis Sci. 2002;43:3160-3164.
4. Wang Y, Rabinowitz YS, Rotter JI, et al. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet. 2000;93:403-409.
5. Hallermann W. [On the semiology and genetics of keratoglobus (author's transl)]. Klin Monatsbl Augenheilkd. 1975;166:1-5.
6. Biglan AW, Brown SI, Johnson BL. Keratoglobus and blue sclera. Am J Ophthalmol. 1977;83:225-233.
7. Hopfer U, Fukai N, Hopfer H, et al. Targeted disruption of Col8a1 and Col8a2 genes in mice leads to anterior segment abnormalities in the eye. FASEB J. 2005;19:1232-1244.
8. Yamaguchi N, Benya PD, van der Rest M, et al. The cloning and sequencing of alpha 1(VIII) collagen cDNAs demonstrate that type VIII collagen is a short chain collagen and contains triple-helical and carboxyl-terminal non-triple-helical domains similar to those of type X collagen. J Biol Chem. 1989;264:16022-16029.
9. Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10:2415-2423.
10. Gottsch JD, Sundin OH, Liu SH, et al. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:1934-1939.
11. Aldave AJ, Rayner SA, Salem AK, et al. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2006;47:3787-3790.
12. Kobayashi A, Fujiki K, Murakami A, et al. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol. 2004;48:195-198.
13. Yellore VS, Rayner SA, Emmert-Buck L, et al. No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:1599-1603.
14. Triana M, Logan D, Jones R, et al. Distribution of DNA sequence variants in COL8A1 and COL8A2 in glaucoma patients with thin CCT. Invest Ophthalmol Vis Sci. 2006;47:E185.
15. Iyengar SK, Shaffer S, Kluge A, et al. Analysis of mutations in the gene for the alpha 2 chain of type VIII collagen (COL8A2) in families and cases with Fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:E4715.
16. How ACS, Aung T, Yong VHK, et al. Analysis of known corneal endothelial dystrophy loci in a Chinese family with Fuchs endothelial dystrophy. Invest Ophthalmol Vis Sci. 2005;46:E4933.
17. Gottsch JD, Zhang C, Sundin OH, et al. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. Invest Ophthalmol Vis Sci. 2005;46:4504-4511.
18. Ferrini W, Willoughby C, Walter MA, Heon E. Identification of a potential keratoconus/PPCD locus on 6p25. Invest Ophthalmol Vis Sci. 2005;46:E4935.
19. Gasset AR, Zimmerman TJ. Posterior polymorphous dystrophy associated with keratoconus. Am J Ophthalmol. 1974;78:535-537.
20. Weissman BA, Ehrlich M, Levenson JE, et al. Four cases of keratoconus and posterior polymorphous corneal dystrophy. Optom Vis Sci. 1989;66:243-246.
21. Bechara SJ, Grossniklaus HE, Waring GO 3rd, et al. Keratoconus associated with posterior polymorphous dystrophy. Am J Ophthalmol. 1991;112:729-731.
22. Blair SD, Seabrooks D, Shields WJ, et al. Bilateral progressive essential iris atrophy and keratoconus with coincident features of posterior polymorphous dystrophy: a case report and proposed pathogenesis. Cornea. 1992;11:255-261.
23. Driver PJ, Reed JW, Davis RM. Familial cases of keratoconus associated with posterior polymorphous dystrophy. Am J Ophthalmol. 1994;118:256-257.
24. Héon E, Greenberg A, Kopp KK, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002;11:1029-1036.
25. Kuhlenbäumer G, Müller US, Besselmann M, et al. Neither collagen 8A1 nor 8A2 mutations play a major role in cervical artery dissection. A mutation analysis and linkage study. J Neurol. 2004;251:357-359.