Purchase this article with an account.
M. N. Pham, V. S. Yellore, S. A. Rayner, R. C. Vo, A. J. Aldave; Novel Frameshift Mutations in ZEB1 Associated With Posterior Polymorphous Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2009;50(13):5500.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To describe novel mutations in the zinc finger E-box binding homeobox 1 gene (ZEB1) gene associated with posterior polymorphous corneal dystrophy (PPCD).
Screening of ZEB1 was performed in four recently identified probands with PPCD as well as affected and unaffected family members. Identified sequence variants were screened for in 100 control individuals.
Pathogenic mutations were identified in three of the four probands. Each was a novel frameshift mutation: c.689_690delAT (His230fsX6), c.1570dupG and c.3116_3117delAG. Screening of affected and unaffected family members demonstrated that each identified mutation segregated with the disease phenotype in each family. None of the ZEB1 mutations was identified in 200 control chromosomes.
We describe three novel frameshift mutations in the ZEB1 gene, consistent with previous descriptions of pathogenic frameshift and nonsense mutations in ZEB1. We have now identified ZEB1 mutations in 11 of 36 families with PPCD, indicating that approximately one-third of PPCD is associated with coding region mutations in ZEB1.
This PDF is available to Subscribers Only