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.
|ジャーナル||Japanese Journal of Clinical Ophthalmology|
|出版ステータス||Published - 2001 6 15|
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