title: Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
abstract: OBJECTIVE
  To investigate the Myocilin (MYOC) gene for mutations and polymorphisms in patients with primary open-angle glaucoma (POAG) in Morocco.
  
  
  METHODS
  Fifty-seven patients with severe POAG, who suffered from complete or almost complete visual field loss, were included in the study. The MYOC coding region, including exon I, exon II, and the coding part of exon III, were screened for sequence alteration using denaturing high-performance liquid chromatography (DHPLC). Variant amplicons were sequenced bidirectionally. The control group consisted of 60 subjects from the general population.
  
  
  RESULTS
  One disease-causing mutation, T377M, was observed in one POAG patient. In addition, 10 polymorphisms, namely P13P, R76K, R82H, G122G, T135I, L159L (often associated with P13P), T285T, T325T, Y347Y, and E396E, were detected in patients or in controls. The Q368X mutation that has been documented in Caucasian POAG patients was absent.
  
  
  CONCLUSIONS
  MYOC is an infrequent genetic cause of severe POAG in Morocco. The absence of the POAG-associated Q368X mutation and the presence of particular polymorphisms, including P13P + L159L and T325T, could be specific features of the MYOC sequence in African populations.
authors.affiliation: Laboratoire de Biologie Cellulaire et Moléculaire, Université Ibnou Zohr, Agadir, France.
authors.forename: Rahma
authors.initials: R
authors.lastname: Melki
authors.forename: Abderrahmane
authors.initials: A
authors.lastname: Idhajji
authors.forename: Said
authors.initials: S
authors.lastname: Driouiche
authors.forename: Moustafa
authors.initials: M
authors.lastname: Hassani
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Boukabboucha
authors.forename: Omar
authors.initials: O
authors.lastname: Akhayat
authors.forename: Henri
authors.initials: H
authors.lastname: Garchon
authors.forename: Ahmed
authors.initials: A
authors.lastname: Belmouden
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D003598:Cytoskeletal Proteins; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009018:Morocco; D009154:Mutation; D011110:Polymorphism, Genetic; D014129:Trabecular Meshwork / Q000378:metabolism; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D004247:DNA; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin