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Abstract #9135 Published in IGR 5-2
Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma
Bruttini M; Longo I; Frezzotti P; Ciappetta R; Randazzo A; Orzalesi N; Fumagalli E; Caporossi A; Frezzotti R; Renieri AArchives of Ophthalmology 2003; 121: 1034-1038
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 two families. In one family, a previously reported p.K423E mutation was transmitted from the index patient with POAG to the two 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 two families with MYOC gene mutations indicates that POAG and JOAG are the two sides of a continuum phenotypical spectrum due to a common molecular defect. On the other hand, these 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.
Dr. M. Bruttini, Division of Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
