Chang Liu, Zhiqun Wang, Shijing Deng, Chen Zhang, Qingfeng Liang, Li Li, Xuguang Sun
Beijing TongRen Ophthalmic Center, Beijing Institute of Ophthalmology, Capital University of Medical Sciences, Beijing, China.
Arch Ophthalmol. 2009 May;127(5):641-4. doi: 10.1001/archophthalmol.2009.71.
To analyze transforming growth factor beta-induced (TGFBI) gene mutations in 2 Chinese families with Thiel-Behnke corneal dystrophy (TBCD).
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.
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.
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.
分析2个患有蒂尔-贝恩克角膜营养不良（TBCD）的中国家系中转化生长因子β诱导（TGFBI）基因突变情况。
对2个患有TBCD的中国家系中的45名个体进行裂隙灯显微镜检查。从患病和未患病家庭成员的外周血白细胞中提取基因组DNA。采用聚合酶链反应和标准自动测序方法对TGFBI基因进行分子遗传学分析。
在17名患有TBCD的家庭成员中，鉴定出TGFBI基因的Arg124Cys（R124C）突变，而未发现Arg555Gln（R555Q）突变。所有未患病个体均未出现Arg124Cys突变。
Arg124Cys突变与2个中国家系的TBCD相关。TGFBI基因的这种突变可能会诱发不同表型的角膜营养不良。临床意义 蒂尔-贝恩克角膜营养不良可能由TGFBI基因的Arg124Cys突变引起。
