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Journal Articles Molecular Vision Year : 2021

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

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Christina Zeitz

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.
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Dates and versions

pasteur-03219621 , version 1 (06-05-2021)

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Attribution - CC BY 4.0

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Mouna Hadrami, Crystel Bonnet, Christina Zeitz, Fatimetou Veten, Med Biya, et al.. Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.. Molecular Vision, 2021, 25, pp.373-381. ⟨pasteur-03219621⟩
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