A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy

Japanese Journal of Ophthalmology

Volumn 52, Issue 3, 2008, Pages 224-226

  Seto, Takahiko ^a   Fujiki, Keiko ^a   Kishishita, Hitoshi ^b   Fujimaki, Takuro ^a   Murakami, Akira ^a   Kanai, Atsushi ^c  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Higashi Kasai Eye Clinic   (Japan)

^c JUNTENDO TOKYO KOTO GERIATRIC MEDICAL CENTER   (Japan)

Author keywords

Keratin 12; KRT12 gene; Meesmann corneal dystrophy; Mutation

Indexed keywords

ARGININE; CYTOKERATIN 12; GENOMIC DNA; LEUCINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; DNA EXTRACTION; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INFORMED CONSENT; JAPANESE; LEUKOCYTE; MEESMANN CORNEAL DYSTROPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; CHILD; CORNEA; CORNEAL DYSTROPHY, JUVENILE EPITHELIAL OF MEESMANN; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; KERATIN-12; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 48249103998     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-007-0518-2     Document Type: Article

References (5)

1. B.S. Fine M. Yanoff E. Pitts F.D. Slaughter 1977 Meesmann's epithelial dystrophy of the cornea Am J Ophthalmol 83 633 642
2. A.D. Irvine L.D. Corden O. Swensson 1997 Mutations in corneaspecific keratin K3 or K12 genes cause Meesmann's corneal dystrophy Nat Genet 16 184 187
3. K. Nishida Y. Honma A. Dota 1997 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 61 1268 1275
4. L.D. Corden O. Swensson B. Swensson 2000 A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy Br J Ophthalmol 84 527 530
5. M.K. Yoon J.F. Warren D.S. Holsclaw D.C. Gritz T.P. Margolis 2004 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 88 752 756