Novel PAX6 mutation reported in an aniridia patient

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 limba...

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Detalles Bibliográficos
Autores principales: Winegarner, Andrew, Oie, Yoshinori, Kawasaki, Satoshi, Nishida, Nozomi, Nishida, Kohji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719187/
https://www.ncbi.nlm.nih.gov/pubmed/29238604
http://dx.doi.org/10.1038/hgv.2017.53
Descripción
Sumario: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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