Advanced search
Publication Cover
Ophthalmic Genetics Volume 26, 2005 - Issue 4
Submit an article Journal homepage
92
Views
8
CrossRef citations to date
0
Altmetric
MUTATION REPORT

Meesmann Corneal Dystrophy (MECD): Report of 2 Families and a Novel Mutation in the Cornea Specific Keratin 12 (KRT12) Gene

Olivia Nichini IRO-Institut de Recherche en Ophtalmologie, Sion, Switzerland
,
Violaine d'Allèves Manzi IRO-Institut de Recherche en Ophtalmologie, Sion, Switzerland
,
Francis L. Munier Jules Gonin Eye Hospital, Lausanne, Switzerland and Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland
&
Daniel F. Schorderet IRO-Institut de Recherche en Ophtalmologie, Sion, Switzerland and Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland
Pages 169-173 | Accepted 24 Aug 2005, Published online: 08 Jul 2009

REFERENCES

  • Pameijer J. Uber eine fremdartige familiare oberflächliche Hornhautveränderung. Klin Monatsbl Augenheilkd. 1935; 103: 516–517, [CSA]
  • Meesmann A, Wilke F. Klinische und anatomische Untersuchungen über eine bisher unbekannte, dominant vererbte Epitheldystrophie der Hornhaut. Klin Monatsbl Augenheilkd. 1939; 361–391, [CSA]
  • Quinlan R, Hutchison C, Lane B. Intermediate filament proteins. Protein Profile. 1994; 1: 779–911, [PUBMED], [INFOTRIEVE], [CSA]
  • Moll R, Franke W W, Schiller D L, Geiger B, Krepler R. The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells. Cell. 1982; 31: 11–24, [PUBMED], [INFOTRIEVE], [CROSSREF], [CSA]
  • Irvine A D, Corden L D, Swensson O, Swensson B, Moore J E, Frazer D G, Smith F J, Knowlton R G, Christophers E, Rochels R, Uitto J, Mc Lean W H. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet. 1997; 16: 184–187, [PUBMED], [INFOTRIEVE], [CROSSREF], [CSA]
  • Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, Quantock A J, Hosotani H, Yamamoto S, Okada M, Shimomura Y, Kinoshita S. Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. Am J Hum Genet. 1997; 61: 1268–1275, [PUBMED], [INFOTRIEVE], [CROSSREF], [CSA]
  • Coleman C M, Hannush S, Covello S P, Smith F J, Uitto J, Mc Lean W H. A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. Am J Ophthalmol. 1999; 128: 687–691, [PUBMED], [INFOTRIEVE], [CROSSREF], [CSA]
  • Corden L D, Swensson O, Swensson B, Smith F J, Rochels R, Uitto J, McLean W H. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. Exp Eye Res. 2000; 70: 41–49, [PUBMED], [INFOTRIEVE], [CROSSREF], [CSA]
  • Corden L D, Swensson O, Swensson B, Rochels R, Wannke B, Thiel H J, Mc Lean W H. A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. Br J Ophthalmol. 2000; 84: 527–530, [PUBMED], [INFOTRIEVE], [CROSSREF], [CSA]
  • Irvine A D, Coleman C M, Moore J E, Swensson O, Morgan S J, Mc Carthy J H, Smith F J, Black G C, Mc Lean W H. A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. Br J Ophthalmol. 2002; 86: 729–732, [PUBMED], [INFOTRIEVE], [CROSSREF], [CSA]
  • Takahashi K, Takahashi K, Murakami A, Okisaka S, Kimura T, Kanai A. Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. Jpn J Ophthalmol. 2002; 46: 673–674, [PUBMED], [INFOTRIEVE], [CROSSREF], [CSA]
  • Yoon M K, Warren J F, Holsclaw D S, Gritz D C, Margolis T P. A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. Br J Ophthalmol. 2004; 88: 752–756, [PUBMED], [INFOTRIEVE], [CROSSREF], [CSA]
  • Kao W W, Liu C Y, Converse R L, Shiraishi A, Kao C W, Ishizaki M, Doetschman T, Duffy J. Keratin 12-deficient mice have fragile corneal epithelia. Invest Ophthalmol Vis Sci. 1996; 37: 2572–2584, [PUBMED], [INFOTRIEVE], [CSA]
  • Corden L D, Mc Lean W H. Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp Dermatol. 1996; 5: 297–307, [PUBMED], [INFOTRIEVE], [CSA]
  • Steinert P M, Yang J M, Bale S J, Compton J G. Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses. Biochem Biophys Res Commun. 1993; 197: 840–848, [PUBMED], [INFOTRIEVE], [CROSSREF], [CSA]

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.