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Journal articles
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
Abstract : 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.
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219621
Contributor : Crystel Bonnet <>
Submitted on : Thursday, May 6, 2021 - 3:22:29 PM
Last modification on : Thursday, May 13, 2021 - 3:40:53 AM
Long-term archiving on: : Saturday, August 7, 2021 - 7:15:42 PM
Contributor : Crystel Bonnet <>
Submitted on : Thursday, May 6, 2021 - 3:22:29 PM
Last modification on : Thursday, May 13, 2021 - 3:40:53 AM
Long-term archiving on: : Saturday, August 7, 2021 - 7:15:42 PM
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