Variations in the WDR36 gene in German patients with normal tension glaucoma

PURPOSE: To determine the prevalence of WDR36 sequence variants in a cohort of German patients with normal tension glaucoma. METHODS: All of the 23 coding exons and flanking introns of the WDR36 gene were amplified by PCR from genomic DNA and subjected to denaturing high performance liquid chromatography. Samples with aberrant profiles were sequenced. In addition, restriction fragment length polymorphism analysis was performed in order to identify previously described nucleotide changes. RESULTS: This study identified 11 nucleotide changes in the WDR36 gene that lead to predicted amino acid substitutions. Previously reported disease-causing mutations were found in 4% of patients (4/112) whereas sequence variants previously classified as disease-susceptibility mutations were found in 5% of patients (6/112). One nonsynonymous nucleotide change that has not been reported before was found in one patient. Mutation screening also identified several exonic and intronic polymorphisms. CONCLUSIONS: The findings in the current study indicate that WDR36 gene variants may be only rare causes of normal tension glaucoma in the German population.