菅野　仁    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor (Fixed Term)
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I.
Journal	Formal name：Japanese journal of ophthalmology Abbreviation：Jpn J Ophthalmol ISSN code：0021-5155(Print)0021-5155(Linking)
Volume, Issue, Page	47(1),pp.13-7
Author and coauthor	Sakimoto Tohru, Kanno Hitoshi, Shoji Jun, Kashima Yoji, Nakagawa Shigeki, Miwa Shiro, Sawa Mitsuru
Authorship	2nd author
Publication date	2003/09
Summary	PURPOSE:We examined transforming growth factor beta-induced (TGFBI) gene mutations in a family with lattice corneal dystrophy type I.METHODS:The proband was one of the offspring of a consanguineous marriage; 4 affected and 3 unaffected individuals of the family were investigated. Genomic DNA of each case was extracted and used for polymerase chain reaction (PCR). The exon 4, 11, and 12 of the TGFBI gene were directly sequenced. The mutations were confirmed by PCR restriction fragment length polymorphism analysis.RESULTS:There was no significant difference in phenotype between the proband and the other 2 patients, except for progression of the corneal opacity with age. R124C mutation was detected in all affected individuals. In addition, G470X, a novel nonsense mutation, was detected in the proband, resulting in the proband being a compound heterozygote with the TGFBI gene. Her unaffected daughter was found to be heterozygous for G470X.CONCLUSION:It is most likely that the novel nonsense mutation is not pathogenic, and that the mutant keratoepithelin protein with R124C is responsible for the phenotype.
Document No.	12586172