H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people
H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people
复制标题
DOI：
10.1136/bjo.87.6.686
复制
发表时间：
2003-06
影响因子：
4.1
通讯作者：
H. M. Chau;N. T. Ha;L. Cung;T. K. Thanh;K. Fujiki;A. Murakami;A. Kanai
中科院分区：
文献类型：
--
作者：
H. M. Chau;N. T. Ha;L. Cung;T. K. Thanh;K. Fujiki;A. Murakami;A. Kanai
背景/目的：人类转化生长因子β诱导基因突变在不同民族中被报道引起晶格状角膜营养不良。本研究分析了越南LCD人群的TGFBI基因。方法：对13个无血缘关系的家系进行检查，包括34例患者和21例非家系成员。50例正常越南人作为对照。采集血样。从白细胞中提取基因组DNA。采用聚合酶链式反应和直接测序的方法对TGFBI基因进行分析。对角膜纽扣进行了组织病理学研究。结果：临床上可区分两种类型的LCD：一种是典型的LCDI；另一种是起病晚、网格线粗大、双眼不对称。TGFBI基因测序发现3个家系发生R124C突变，10个家系发生H626R突变。H626R-LCD角膜刚果红染色显示上皮下层和基质层有淀粉样沉积。结论：TGFBI基因R124C和H626R突变导致越南人LCD。R124C在许多民族中是LCDI的常见原因，相对罕见，而H626R在几个白人中报道，但在亚洲人中尚未报道，在越南人中最常见(>；75%)。由于H626R引起的表型是介于LCDI和LCDIIIA之间的一种新的变异中间产物，我们建议将其视为LCDIIIB型。
Background/aims: Mutations of the human transforming growth factor β induced gene (TGFBI) were reported to cause lattice corneal dystrophy (LCD) in various nationalities. This study analysed the TGFBI gene in Vietnamese people with LCD. Methods: 13 unrelated families, including 34 patients and 21 unaffected members were examined. 50 normal Vietnamese people served as controls. Blood samples were collected. Genomic DNA was extracted from leucocytes. Analysis of TGFBI gene was performed using the polymerase chain reaction and direct sequencing. Corneal buttons were studied histopathologically. Results: Two clinically distinguishable forms of LCD were revealed: one was typical of LCDI; the other was characterised by the late onset, thick lattice lines, and asymmetry between two eyes. Sequencing of the TGFBI gene revealed R124C mutation in three families and H626R mutation in 10 families. Congo red staining of the H626R-LCD cornea showed amyloid deposits in the subepithelial and stromal layers. Conclusions: R124C and H626R mutations of TGFBI gene caused LCD in Vietnamese people. R124C, a common cause of LCDI in many nationalities, was relatively rare, whereas H626R reported in several white people but not yet in Asians was most common (>75%) in Vietnamese people. Since the phenotype caused by H626R represents a new variant intermediate between LCDI and LCDIIIA, we proposed to consider it as LCD type IIIB.