Skip to Main content Skip to Navigation
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.
Document type :
Journal articles
Complete list of metadata

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

Licence


Distributed under a Creative Commons Attribution 4.0 International License

Identifiers

Citation

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, Molecular Vision, 2021, 25, pp.373-381. ⟨pasteur-03219621⟩

Share

Metrics

Record views

17

Files downloads

18