Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy.

ABSTRACT:

Purpose

To report the identification of five novel nonsense mutations in the zinc finger E-box binding homeobox 1 (ZEB1) gene and exclusion of promoter region mutations in individuals without ZEB1 coding region mutations in posterior polymorphous corneal dystrophy (PPCD).

Methods

Slit-lamp examination and DNA collection were performed for individuals diagnosed with PPCD and, when available, affected and unaffected family members. Genomic DNA prepared from peripheral blood leukocytes and buccal epithelial cells underwent PCR amplification and automated sequencing of the ZEB1 gene and 1 kb 5' of ZEB1, presumably containing the ZEB1 promoter region.

Results

Thirteen unrelated individuals with PPCD were identified, and genomic DNA was collected from each individual. ZEB1

SUBMITTER: Bakhtiari P 

PROVIDER: S-EPMC3611940 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature