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Gene Review

COL8A2  -  collagen, type VIII, alpha 2

Homo sapiens

Synonyms: Collagen alpha-2(VIII) chain, Endothelial collagen, FECD, FECD1, PPCD, ...
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Disease relevance of COL8A2


High impact information on COL8A2


Chemical compound and disease context of COL8A2

  • The indole and MUG indicators both applied to demonstrate E. coli with the ABP or FECD method proved to be equal in specificity [5].

Biological context of COL8A2

  • Refinement of the critical region defined a 6-7 cM interval of chromosome 1p34.3-p32 within which lies the COL8A2 gene [6].
  • All 21 cases with FCD and one with posterior polymorphous dystrophy were heterozygous for L450W, a novel point mutation in the COL8A2 gene [7].
  • Multiple relatives were affected with PPMD with apparent autosomal dominant inheritance, but surprisingly, the PPMD, congenital hereditary endothelial dystrophy 1 (CHED1) and CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2 (COL8A2) gene were excluded by linkage and haplotype analyses [8].
  • CONCLUSIONS: Early-onset COL8A2 L450W disease involves massive accumulation and abnormal assembly of collagen VIII within Descemet's membrane, a process that is presumed to begin during fetal development [2].
  • All exons and intron-exon boundaries of the VSX1 and the COL8A2 genes were amplified by polymerase chain reaction and sequenced [9].

Anatomical context of COL8A2


Other interactions of COL8A2

  • Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy [7].
  • RESULTS: Screening of the COL8A1 gene did not reveal sequence variants in any affected individuals from the 15 FECD families [10].
  • METHODS: A corneal explant from a patient with the L450W COL8A2 mutation and others with late-onset disease were studied with antibodies to collagens IV, VIIIA1, VIIIA2, fibronectin, and laminin [2].
  • A genome-wide search of a three-generation family with early-onset FECD demonstrated significant linkage with D1S2830 (Z(max) = 3.72, theta = 0.0) [6].

Analytical, diagnostic and therapeutic context of COL8A2

  • METHODS: DNA extraction, PCR amplification, and direct sequencing of the COL8A1 and COL8A2 genes was performed in affected and unaffected members of 15 unrelated families with two or more members with late-onset FECD [10].


  1. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Kobayashi, A., Fujiki, K., Murakami, A., Kato, T., Chen, L.Z., Onoe, H., Nakayasu, K., Sakurai, M., Takahashi, M., Sugiyama, K., Kanai, A. Jpn. J. Ophthalmol. (2004) [Pubmed]
  2. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. Gottsch, J.D., Zhang, C., Sundin, O.H., Bell, W.R., Stark, W.J., Green, W.R. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  3. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Krafchak, C.M., Pawar, H., Moroi, S.E., Sugar, A., Lichter, P.R., Mackey, D.A., Mian, S., Nairus, T., Elner, V., Schteingart, M.T., Downs, C.A., Kijek, T.G., Johnson, J.M., Trager, E.H., Rozsa, F.W., Mandal, M.N., Epstein, M.P., Vollrath, D., Ayyagari, R., Boehnke, M., Richards, J.E. Am. J. Hum. Genet. (2005) [Pubmed]
  4. Central demyelinating disorders and hepatitis B vaccination: a risk-benefit approach for pre-adolescent vaccination in France. Lévy-Bruhl, D., Desenclos, J.C., Rebière, I., Drucker, J. Vaccine (2002) [Pubmed]
  5. Evaluation of the MPN, Anderson-Baird-Parker, Petrifilm E. coli and Fluorocult ECD method for enumeration of Escherichia coli in foods of animal origin. Bredie, W.L., de Boer, E. Int. J. Food Microbiol. (1992) [Pubmed]
  6. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Biswas, S., Munier, F.L., Yardley, J., Hart-Holden, N., Perveen, R., Cousin, P., Sutphin, J.E., Noble, B., Batterbury, M., Kielty, C., Hackett, A., Bonshek, R., Ridgway, A., McLeod, D., Sheffield, V.C., Stone, E.M., Schorderet, D.F., Black, G.C. Hum. Mol. Genet. (2001) [Pubmed]
  7. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. Gottsch, J.D., Sundin, O.H., Liu, S.H., Jun, A.S., Broman, K.W., Stark, W.J., Vito, E.C., Narang, A.K., Thompson, J.M., Magovern, M. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  8. Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. Moroi, S.E., Gokhale, P.A., Schteingart, M.T., Sugar, A., Downs, C.A., Shimizu, S., Krafchak, C., Fuse, N., Elner, S.G., Elner, V.M., Flint, A., Epstein, M.P., Boehnke, M., Richards, J.E. Am. J. Ophthalmol. (2003) [Pubmed]
  9. H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. Valleix, S., Nedelec, B., Rigaudiere, F., Dighiero, P., Pouliquen, Y., Renard, G., Le Gargasson, J.F., Delpech, M. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  10. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Aldave, A.J., Rayner, S.A., Salem, A.K., Yoo, G.L., Kim, B.T., Saeedian, M., Sonmez, B., Yellore, V.S. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
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