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Abstract #82125 Published in IGR 20-4
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma
Hadrami M; Bonnet C; Zeitz C; Veten F; Biya M; Hamed CT; Condroyer C; Wang P; Sidi MM; Cheikh S; Zhang Q; Audo I; Petit C; Houmeida AMolecular Vision 2019; 25: 373-381
PURPOSE: Intraocular pressure leading to glaucoma is a major cause of childhood blindness in developing countries. In this study, we sought to identify gene variants potentially associated with primary congenital glaucoma (PCG) in the Mauritanian population. METHODS: Using next-generation sequencing (NGS), a panel of PCG candidate genes was screened in a search for DNA mutations in four families with multiple occurrences of PCG. RESULTS: Targeted exome sequencing analysis revealed predicted pathogenic mutations in four genes: (c.217_218delTC, p.Ser73Valfs*150), (878C>A, p.T293K), (c.601T>G, p.Cys201Gly), and (c.2078A>G, p.Asn693Ser), each carried by a different family. CONCLUSIONS: Genetic variation associated with PCG in this study reflects the ethnic heterogeneity of the Mauritanian population. However, a larger cohort is needed to identify additional families carrying these mutations and confirm their biologic role.
Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, Université des Sciences de Technologies et de médecine (USTM), Nouakchott, Mauritanie.
Classification:
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
