RT Journal Article SR Electronic T1 Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG JF British Journal of Ophthalmology JO Br J Ophthalmol FD BMJ Publishing Group Ltd. SP 624 OP 626 DO 10.1136/bjo.2009.167494 VO 95 IS 5 A1 Paolo Frezzotti A1 Chiara Pescucci A1 Filomena Tiziana Papa A1 Michele Iester A1 Vincenzo Mittica A1 Ilaria Motolese A1 Sabrina Peruzzi A1 Rosangela Artuso A1 Ilaria Longo A1 Maria Antonietta Mencarelli A1 Pietro Mittica A1 Eduardo Motolese A1 Alessandra Renieri YR 2011 UL http://bjo.bmj.com/content/95/5/624.abstract AB Background/aims To assess the involvement of WDR36 sequence variance in primary open-angle glaucoma (POAG) in Italian patients.Methods A cohort of 34 Italian families affected by POAG was analysed by denaturing high-performance liquid chromatography for mutation in the WDR36 gene. Among the 34 families enrolled, 25 were affected by high-tension glaucoma (HTG), four by juvenile open-angle glaucoma and one by normal tension glaucoma. In addition, four families presented both juvenile open-angle glaucoma and HTG-POAG patients within the same pedigree.Results Four previously identified intronic polymorphisms (IVS5+30C→T; IVS12+90 G→T; IVS13+89G→A; IVS16-30A→G) and a novel one (IVS21-75G→A) have been identified. In addition, one proband was found to carry the p.D658G mutation reported as the more recurrent disease-causing allele.Conclusions The findings suggest that WDR36 sequence variance is only a rare cause of glaucoma in Italian families. Clearly, investigation of additional families with extensive studies is needed to clarify the role of WDR36 in the pathophysiology of glaucoma.