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Abstract #45601 Published in IGR 13-2
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG
Frezzotti P; Pescucci C; Papa FT; Iester M; Mittica V; Motolese I; Peruzzi S; Artuso R; Longo I; Mencarelli MABritish Journal of Ophthalmology 2011; 95: 624-626
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.
P. Frezzotti. Department of Ophthalmology, University of Siena, Policlinico Le Scotte, V. Le Bracci 2e53100, Siena, Italy. Email: frezzottip@unisi.it
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)