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

Mouna Hadrami (1) , Crystel Bonnet (2, 3) , Christina Zeitz (2) , Fatimetou Veten (1) , Med Biya (1) , Cheikh Hamed (1) , Christel Condroyer (2) , Panfeng Wang (4) , Med Mahmoud Sidi (5) , Sidi Cheikh (5) , Qingjiong Zhang (4, 6) , Isabelle Audo (2, 7, 6) , Christine Petit (2, 3, 8, 9) , Ahmed Houmeida (1)

1 Faculté des Sciences et Techniques [Nouakchott, Mauritania]
2 Institut de la Vision
3 ED 515 - Complexité du vivant
4 SYSU - Sun Yat-Sen University [Guangzhou]
5 Centre Hospitalier National, B.P. 4160, Nouakchott, Mauritania
6 CHNO - Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
7 UCL - University College of London [London]
8 Génétique et Physiologie de l'Audition
9 CdF (institution) - Collège de France

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.

Domains: Life Sciences [q-bio]

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⟩