A novel 568delG mutation of PAX6 gene in a Japanese family with aniridia

T. Suzuki, Y. Wada, T. Abe, Y. Sagara, M. Tamai

研究成果: Article査読

抄録

Three members of a Japanese family presented with complete aniridia, cataract, macular hypoplasia and secondary glaucoma, The mutation screening analysis of the affected members showed 568delG mutation in the paired box DNA binding protein 6 (PAX6) gene. This novel mutation truncates PAX6 protein at the end of the N-terminal subdomain, and the product possibly functions dominant negatively. We thought that the reason why the cataracts of this family was milder than previous cases is associated with the possibility that this mutation would not change another splice variant of PAX6 which expresses in the lens.

本文言語English
ページ(範囲)411-416
ページ数6
ジャーナルJapanese Journal of Clinical Ophthalmology
55
4
出版ステータスPublished - 2001 6 15

ASJC Scopus subject areas

  • 眼科学

フィンガープリント

「A novel 568delG mutation of PAX6 gene in a Japanese family with aniridia」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル