Konishi M, Mashima Y, Yamada M, Kudoh J, Shimizu N
Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
Am J Ophthalmol. 1998 Sep;126(3):450-2. doi: 10.1016/s0002-9394(98)00105-6.
To identify the BIGH3 gene mutation in 10 unrelated Japanese individuals with granular corneal dystrophy.
Genomic DNA was obtained from each patient's leukocytes. Exons 4 and 12 of the BIGH3 gene were amplified by polymerase chain reaction and were directly sequenced.
Nine of these patients were found to have the R124H mutation, whereas only one had the R555W mutation. Slit-lamp examination showed that the granular corneal dystrophy associated with each mutation is different.
These results, together with our previous findings, show that the classic form of granular corneal dystrophy associated with the R555W mutation is rare in Japanese patients, whereas granular corneal dystrophy accompanied by amyloid deposits and associated with the R124H mutation, Avellino corneal dystrophy, is more common. Direct examination may be insufficient in the proper diagnosis of corneal dystrophy, and BIGH3 mutation analysis may be required.
在10名无亲缘关系的日本颗粒状角膜营养不良患者中鉴定BIGH3基因突变。
从每位患者的白细胞中获取基因组DNA。通过聚合酶链反应扩增BIGH3基因的第4和12外显子，并直接进行测序。
这些患者中有9名被发现存在R124H突变，而只有1名有R555W突变。裂隙灯检查显示，与每种突变相关的颗粒状角膜营养不良有所不同。
这些结果与我们之前的发现共同表明，与R555W突变相关的经典型颗粒状角膜营养不良在日本患者中较为罕见，而伴有淀粉样沉积物且与R124H突变相关的颗粒状角膜营养不良，即阿韦利诺角膜营养不良，则更为常见。直接检查可能不足以准确诊断角膜营养不良，可能需要进行BIGH3突变分析。
