Novel PAX6 mutation reported in an aniridia patient.
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ABSTRACT:
SUBMITTER: Winegarner A
PROVIDER: S-EPMC5719187 | biostudies-other | 2017
REPOSITORIES: biostudies-other
Publications
Novel <i>PAX6</i> mutation reported in an aniridia patient.
Winegarner Andrew A Oie Yoshinori Y Kawasaki Satoshi S Nishida Nozomi N Nishida Kohji K
Human genome variation 20171207
An aniridia patient was found to have a novel <i>PAX6</i> mutation. A genetic duplication within <i>PAX6</i>, 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. ...[more]
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