A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.

ABSTRACT:

Purpose

To identify the underlying genetic cause in a two generation German family diagnosed with isolated aniridia.

Methods

All patients underwent full ophthalmic examination. Mutation screening of the paired box gene 6 (PAX6) was performed by bidirectional Sanger sequencing. A minigene assay was applied to analyze transcript processing of mutant and wildtype PAX6 variants in HEK293 cells.

Results

We identified a PAX6 sequence variant at the splice donor site (+5) of intron 12. This variant has been described before in another family with aniridia but has not been characterized at the transcript level. We could demonstrate that the mutant allele causes the skipping of exon 12 during transcript processing. The mutation is predicted to result in a 'run on' translation

SUBMITTER: Weisschuh N 

PROVIDER: S-EPMC3324353 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature