Objective: To analyze transforming growth factor beta-induced (TGFBI) gene mutations in 2 Chinese families with Thiel-Behnke corneal dystrophy (TBCD). Methods: Forty-five individuals in 2 Chinese families with TBCD were examined using slitlamp biomicroscopy. Genomic DNA was extracted from peripheral leukocytes of affected and unaffected family members. Molecular genetic analysis of the TGFBI gene was performed using polymerase chain reaction and standard automated sequencing methods. Results: In 17 family members with TBCD, an Arg124Cys (R124C) mutation of the TGFBI gene was identified, whereas the Arg555Gln (R555Q) mutation was absent. The Arg124Cys mutation was absent in all unaffected individuals. Conclusions: The Arg124Cys mutation was associated with TBCD in 2 Chinese families. This mutation in the TGFBI gene may induce different phenotypes of corneal dystrophy. Clinical Relevance: Thiel-Behnke corneal dystrophy may be caused by an Arg124Cys mutation of the TGFBI gene.
第一作者机构：[1]Capital Univ Med Sci, Beijing Tong Ren Ophthalm Ctr, Beijing Inst Ophthalmol, Beijing 100005, Peoples R China
通讯作者：
通讯机构：[1]Capital Univ Med Sci, Beijing Tong Ren Ophthalm Ctr, Beijing Inst Ophthalmol, Beijing 100005, Peoples R China[*1]Capital Univ Med Sci, Beijing Tong Ren Ophthalm Ctr, Beijing Inst Ophthalmol, 17 Hou Gou Ln,Chong Nei St, Beijing 100005, Peoples R China
推荐引用方式(GB/T 7714)：
Liu Chang,Wang Zhiqun,Deng Shijing,et al.Arg124Cys Mutation of the TGFBI Gene in 2 Chinese Families With Thiel-Behnke Corneal Dystrophy[J].ARCHIVES OF OPHTHALMOLOGY.2009,127(5):641-644.doi:10.1001/archophthalmol.2009.71.
APA：
Liu Chang,Wang Zhiqun,Deng Shijing,Zhang Chen,Liang Qingfeng...&Sun Xuguang.(2009).Arg124Cys Mutation of the TGFBI Gene in 2 Chinese Families With Thiel-Behnke Corneal Dystrophy.ARCHIVES OF OPHTHALMOLOGY,127,(5)
MLA：
Liu Chang,et al."Arg124Cys Mutation of the TGFBI Gene in 2 Chinese Families With Thiel-Behnke Corneal Dystrophy".ARCHIVES OF OPHTHALMOLOGY 127..5(2009):641-644
