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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)411-416
Number of pages6
JournalJapanese Journal of Clinical Ophthalmology
Volume55
Issue number4
Publication statusPublished - 2001 Jun 15

ASJC Scopus subject areas

  • Ophthalmology

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