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Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG
  1. Paolo Frezzotti1,
  2. Chiara Pescucci2,
  3. Filomena Tiziana Papa2,
  4. Michele Iester3,
  5. Vincenzo Mittica1,
  6. Ilaria Motolese1,
  7. Sabrina Peruzzi1,
  8. Rosangela Artuso2,
  9. Ilaria Longo2,
  10. Maria Antonietta Mencarelli2,
  11. Pietro Mittica1,
  12. Eduardo Motolese1,
  13. Alessandra Renieri2
  1. 1Ophthalmology Department, University of Siena, Siena, Italy
  2. 2Medical Genetics, Molecular Biology Department, University of Siena, Siena, Italy
  3. 3Clinica Oculistica, DINOG, University of Genova, Genova, Italy
  1. Correspondence to Dr Paolo Frezzotti, Department of Ophthalmology, University of Siena, Policlinico Le Scotte, V. Le Bracci 2–53100, Siena, Italy; frezzottip{at}


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.

  • WDR36 gene
  • MYOC
  • primary open angle glaucoma
  • OPTN
  • normal tension glaucoma
  • optic nerve
  • intraocular pressure
  • genetics

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  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study was conducted with the approval of the University of Siena.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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