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

Mouna Hadrami; Crystel Bonnet; Christina Zeitz; Fatimetou Veten; Med Biya; Cheikh Hamed; Christel Condroyer; Panfeng Wang; Med Mahmoud Sidi; Sidi Cheikh; Qingjiong Zhang; Isabelle Audo; Christine Petit; Ahmed Houmeida

Journal articles

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, *}

* Corresponding author

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 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

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

Domain :

Life Sciences [q-bio]

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https://hal-pasteur.archives-ouvertes.fr/pasteur-03219621
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Submitted on : Thursday, May 6, 2021 - 3:22:29 PM
Last modification on : Thursday, May 13, 2021 - 3:40:53 AM

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

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

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