Three novel mutations of the PAX6 gene in Japanese aniridia patients

被引：0

作者：

Toshio Kawano

Chunxia Wang

Yoshihiro Hotta

Miho Sato

Emi Iwata-Amano

Akiko Hikoya

Naoya Fujita

Norihisa Koyama

Shoichiro Shirai

Noriyuki Azuma

Masafumi Ohtsubo

Nobuyoshi Shimizu

Shinsei Minoshima

机构：

[1] Hamamatsu University School of Medicine,Department of Ophthalmology

[2] Hamamatsu University School of Medicine,Medical Photobiology Department, Photon Medical Research Center

[3] Nagoya University Graduate School of Medicine,Department of Ophthalmology

[4] Toyohashi Municipal Hospital,Department of Pediatrics

[5] Toyohashi Municipal Hospital,Department of Ophthalmology

[6] National Center for Child Health and Development,Department of Ophthalmology

[7] Keio University School of Medicine,Department of Molecular Biology

来源：

Journal of Human Genetics | 2007年 / 52卷

关键词：

Aniridia; Mutation; Database; VATER association;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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/).

引用

页码：571 / 574

页数：3

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