Novel PAX6 mutation reported in an aniridia patient

被引：2
|
作者：
Andrew Winegarner
Yoshinori Oie
Satoshi Kawasaki
Nozomi Nishida
Kohji Nishida
机构：
[1] Osaka University Graduate School of Medicine,Department of Ophthalmology
[2] Kansas University Medical Center,Department of Ophthalmology
[3] School of Medicine,undefined
来源：
Human Genome Variation | / 4卷 / 1期
关键词：
D O I：
10.1038/hgv.2017.53
中图分类号：
学科分类号：
摘要：
An aniridia patient was found to have a novel PAX6 mutation. A genetic duplication within PAX6, which caused a frameshift mutation, ultimately created a nonsense stop codon and premature truncation of the protein. Consequently, the patient presented with a clouded cornea as a result of partial limbal stem cell deficiency, foveal hypoplasia, nystagmus and a pale, cupped optic disc caused by glaucoma.
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