Profiling ofWDR36Missense Variants in German Patients with Glaucoma

Abstract

The occurrence of several rare putative disease-causing variants in patients with glaucoma suggests that WDR36 may be a minor disease-causing gene in glaucoma, at least in the German population. The large variability in WDR36, though, requires functional validation of these variants, once its function is characterized.

Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment

“…86 In all these reports, WDR36 variants, including the D658G variant, which was used by Monemi to assert that WDR36 is a glaucoma gene, were equally found in patients and controls and failed to segregate with POAG. There are families linked to the GLC1G locus in which a WDR36 mutation cannot be detected.…”

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

“…Further recruitment and clinical data have been previously reported. 13,14,19 All subjects were also screened for MYOC, OPTN (data not shown), WDR36, 19 CYP1B1 13 and NTF4 14 mutations (to note that patients with mutations in one of these candidate genes were also included in the present screening study as the etiology of glaucoma is still unknown).…”

Molecular complexity of primary open angle glaucoma: current concepts

“…They concluded that defect in WDR36 is not sufficient for POAG causation rather WDR36 act as a modifier locus for POAG (Hauser et al 2006a). Studies on German POAG and NTG patients concluded that WDR36 play a minor role in OAG pathogenesis (Weisschuh et al 2007;Pasutto et al 2008). A case-control study in Australian population with one of the predominant WDR36 mutations (i.e.…”