Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy

Japanese Journal of Ophthalmology

Volumn 46, Issue 6, 2002, Pages 673-674

  Takahashi, Kozo ^a   Takahashi, Kenzo ^b   Murakami, Akira ^a   Okisaka, Shigekuni ^c   Kimura, Tairou ^a   Kanai, Atsushi ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b GUNMA UNIVERSITY   (Japan)

^c NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

Author keywords

Gene; Keratin 12; Meesmann's corneal dystrophy; Mutation

Indexed keywords

ALANINE; GENE PRODUCT; KERATIN 12; KERATIN 3; PROLINE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CATARACT; CODON; CONTROLLED STUDY; CORNEA DYSTROPHY; CYST; FAMILY STUDY; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; MALE; MEESMANN CORNEAL DYSTROPHY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHOTOPHOBIA; PRIORITY JOURNAL; SIBLING; VISUAL ACUITY;

AGED; AMINO ACID SUBSTITUTION; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; JAPAN; KERATINS; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0036875094     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-5155(02)00563-4     Document Type: Article

References (5)

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2. Stocker F.D., Holt L.B. Rare form of hereditary epithelial dystrophy. genetic, clinical and pathologic study Arch Ophthalmol. 53:1955;536-541.
3. Irvine A.D., Corden L.D., Swensson O.et al. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet. 16:1997;184-187.
4. Nishida K., Honma Y., Dota A.et al. 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. 61:1997;1268-1275.
5. Corden L.D., Swensson O., Swensson B.et al. 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. 70:2000;41-49.