Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma

Aldo Caporossi, Mirella Bruttini, Ilaria Longo, Paolo Frezzotti, Rossella Ciappetta, Alessandro Randazzo, Nicola Orzalesi, Elena Fumagalli, Renato Frezzotti, Alessandra Renieri

Risultato della ricerca: Contributo in rivistaArticolo in rivista

41 Citazioni (Scopus)

Abstract

Objectives: To investigate the prevalence of myocilin (MYOC) mutations in Italian families with glaucoma and to determine the relationship of these mutations to primary open-angle glaucoma (POAG), juvenile open-angle glaucoma (JOAG), and pigmentary dispersion glaucoma. Methods: Twenty-six patients with POAG were selected based on a positive family history of glaucoma. All patients and 210 relatives had an accurate clinical characterization. Main Outcome Measure: Each index patient was screened by single-stranded conformational polymorphism analysis for mutations in the MYOC gene. Results: A MYOC gene mutation was found in 2 families. In one family, a previously reported p.K423E mutation was transmitted from the index patient with POAG to the 2 sons with JOAG. In the second family, a p.C25R change, affecting the signal peptide, was transmitted from the index patient with POAG to the son with JOAG, but not to the son with pigmentary dispersion glaucoma. Conclusions: Clinical characterization of 2 families with MYOC gene mutations indicates that POAG and JOAG are the 2 sides of a continuum phenotypical spectrum due to a common molecular defect. On the other hand, our results confirm the different origin of pigmentary dispersion glaucoma. Clinical Relevance: Because MYOC gene mutations may be responsible for a fraction (2 [8%] of 26) of families with POAG/JOAG, a molecular genetic diagnosis should be included in the management of patients with glaucoma.
Lingua originaleEnglish
pagine (da-a)1034-1038
Numero di pagine5
RivistaArchives of Ophthalmology
Volume121
DOI
Stato di pubblicazionePubblicato - 2003

Keywords

  • Adult
  • Aged
  • Cytoskeletal Proteins
  • DNA Mutational Analysis
  • Eye Diseases, Hereditary
  • Eye Proteins
  • Family
  • Glaucoma, Open-Angle
  • Glycoproteins
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Ophthalmology
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Prevalence

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