Kawano Toshio, Wang Chunxia, Hotta Yoshihiro, Sato Miho, Iwata-Amano Emi, Hikoya Akiko, Fujita Naoya, Koyama Norihisa, Shirai Shoichiro, Azuma Noriyuki, Ohtsubo Masafumi, Shimizu Nobuyoshi, Minoshima Shinsei
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Medical Photobiology Department, Photon Medical Research Center, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431-3192, Japan.
J Hum Genet. 2007;52(7):571-574. doi: 10.1007/s10038-007-0153-2. Epub 2007 Jun 14.
Mutations in the PAX6 gene of Japanese aniridia patients were analyzed. Four types of mutations including one known (474delC) and three novel (786_787ins10, 678_688del11 and 572_575delAATCins14) were found in six patients from four families. A patient with the mutation 572_575delAATCins14 also manifested VATER association. This is the first case of aniridia accompanied by VATER association. All of mutations found in this study are frameshift type, resulting in premature termination of translation. The database for PAX6 gene mutation has been made using a graphical data display system MutationView ( http://mutview.dmb.med.keio.ac.jp/ ).
对日本无虹膜患者的PAX6基因中的突变进行了分析。在来自四个家族的六名患者中发现了四种类型的突变，其中一种是已知突变（474delC），另外三种是新突变（786_787ins10、678_688del11和572_575delAATCins14）。一名携带572_575delAATCins14突变的患者还表现出VATER综合征。这是首例伴有VATER综合征的无虹膜病例。本研究中发现的所有突变均为移码型，导致翻译提前终止。已使用图形数据显示系统MutationView（http://mutview.dmb.med.keio.ac.jp/ ）建立了PAX6基因突变数据库。
