A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I

Japanese Journal of Ophthalmology

Volumn 47, Issue 1, 2003, Pages 13-17

  Sakimoto, Tohru ^a   Kanno, Hitoshi ^b   Shoji, Jun ^a   Kashima, Yoji ^a   Nakagawa, Shigeki ^a   Miwa, Shiro ^c   Sawa, Mitsuru ^a  

^a NIHON UNIVERSITY   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c Okinaka Memorial Institute for Medical Research   (Japan)

Author keywords

Corneal dystrophy; Nonsense mutation; Transforming growth factor beta induced gene

Indexed keywords

GENOMIC DNA; KERATOEPITHELIN PROTEIN; MUTANT PROTEIN; PROTEIN DERIVATIVE; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

ADULT; AGE; AGED; ARTICLE; CASE REPORT; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; CORNEA OPACITY; DISEASE COURSE; DNA EXTRACTION; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGENY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TGFBI GENE;

ADOLESCENT; ADULT; AGED; CODON, NONSENSE; CONSANGUINITY; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HETEROZYGOTE; HUMANS; NEOPLASM PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TRANSFORMING GROWTH FACTOR BETA;

EID: 0037262684     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-5155(02)00644-5     Document Type: Article

References (9)

1. Munier F.L., Korvatska E., Djemai A.et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 15:1997;247-251.
2. Korvatska E., Munier F.L., Djemai A.et al. Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet. 62:1998;320-324.
3. Fujiki K., Hotta Y., Nakayasu K.et al. A new L527R mutation of the βig-h3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet. 103:1998;286-289.
4. Klintworth G.K. Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol. 128:1999;747-754.
5. Schmitt-Bernard C.F., Guittard C., Arnaud B.et al. BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. Invest Ophthalmol Vis Sci. 41:2000;1302-1308.
6. Dighiero P., Drunat S., D'Hermies F., Renard G., Delpech M., Valleix S. A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene. Arch Ophthalmol. 118:2000;814-818.
7. Hotta Y., Fujiki K., Ono K.et al. Arg124Cys mutation of the βig-h3 gene in a Japanese family with lattice corneal dystrophy type I. Jpn J Ophthalmol. 42:1998;450-458.
8. Scmitt-Bernard C.F., Chavanieu A., Derancourt J.et al. In vitro creation of amyloid fibrils from native and Arg124Cys mutated βIgh3 peptides, and its relevance for lattice corneal amyloid dystrophy type I. Biochem Biophys Res Commun. 273:2000;649-653.
9. Korvatska E., Henry H., Mashima Y.et al. Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein. J Biol Chem. 275:2000;11465-11469.