Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma

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...

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Detalles Bibliográficos
Autores principales: Hadrami, Mouna, Bonnet, Crystel, Zeitz, Christina, Veten, Fatimetou, Biya, Med, Hamed, Cheikh T., Condroyer, Christel, Wang, Panfeng, Sidi, Med Mahmoud, Cheikh, Sidi, Zhang, Qingjiong, Audo, Isabelle, Petit, Christine, Houmeida, Ahmed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639433/
https://www.ncbi.nlm.nih.gov/pubmed/31367175
Descripción
Sumario: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: CYP1B1 (c.217_218delTC, p.Ser73Valfs*150), MYOC (878C>A, p.T293K), NTF4 (c.601T>G, p.Cys201Gly), and WDR36 (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.

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