カンノ　ヒトシ   菅野　仁    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I.
掲載誌名	正式名：Japanese journal of ophthalmology 略　 称：Jpn J Ophthalmol ISSNコード：0021-5155(Print)0021-5155(Linking)
巻・号・頁	47(1),pp.13-7
著者・共著者	Sakimoto Tohru, Kanno Hitoshi, Shoji Jun, Kashima Yoji, Nakagawa Shigeki, Miwa Shiro, Sawa Mitsuru
担当区分	2nd著者
発行年月	2003/09
概要	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.
文献番号	12586172