Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
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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.
SUBMITTER: Hadrami M
PROVIDER: S-EPMC6639433 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
Hadrami Mouna M Bonnet Crystel C Zeitz Christina C Veten Fatimetou F Biya Med M Hamed Cheikh T CT Condroyer Christel C Wang Panfeng P Sidi Med Mahmoud MM Cheikh Sidi S Zhang Qingjiong Q Audo Isabelle I Petit Christine C Houmeida Ahmed A
Molecular vision 20190713
<h4>Purpose</h4>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.<h4>Methods</h4>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.<h4>Results</h4>Targeted exome sequencing analysis reve ...[more]
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