In 17 individuals with POAG, 11 with high-pressure and 6 with low-pressure glaucoma, Monemi et al. (2005) identified 4 mutations in the WDR36 gene (609669.0001-609669.0004). The mutations were absent in a minimum of 200 normal control chromosomes, and ... In 17 individuals with POAG, 11 with high-pressure and 6 with low-pressure glaucoma, Monemi et al. (2005) identified 4 mutations in the WDR36 gene (609669.0001-609669.0004). The mutations were absent in a minimum of 200 normal control chromosomes, and the residues were conserved between WDR36 orthologs in mouse, rat, dog, chimp, and human. Fingert et al. (2007) were unable to replicate the association between the WDR36 gene and POAG reported by Monemi et al. (2005). They screened 2 large cohorts of patients with POAG and ethnically matched control subjects from Iowa. The D658G substitution (609669.0001), the most common disease-associated variant in the article by Monemi et al. (2005), was detected in patients and controls at the same frequency. Two variants, neither of which was reported by Monemi et al. (2005), were identified only in patients in both cohorts; however, the frequency of these variations was not statistically associated with POAG. Fingert et al. (2007) suggested that the different findings may be due to differences in the patient populations in the 2 studies with regard to ethnic background, phenotypic stratification, or matching of controls. Pasutto et al. (2008) screened for mutations in the WDR36 gene in 399 patients of German descent with glaucoma with diverse age of onset and intraocular pressure (IOP) levels and in 376 control subjects. They identified 13 rare nonsynonymous WDR36 variants, of which 7 were novel. Six of the 7 novel variants were found in one patient each, and the other (D33E) was found in 6 patients and 1 control subject. Five of the previously described variants, including D658G (609669.0001) and A449T (609669.0003), were found in similar frequencies in patients and controls. Thus, a total of 8 putative disease-causing variants were identified in 15 patients (3.7%) but only 1 control subject (0.2%) (p = 0.0005). Among the 15 patients, disease severity and age of onset showed a broad range; 12 presented with high and 3 with low IOP. Pasutto et al. (2008) concluded that WDR36 may be a minor disease-causing gene for glaucoma, at least in the German population. Frezzotti et al. (2011) screened for mutations in the WDR36 gene in 34 Italian patients with POAG and identified only 1 disease-causing variant (D658G; 609669.0001). They concluded that mutation in the WDR36 gene is a rare cause of glaucoma in Italian families.