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. 2019 Jul 13:25:373-381.
eCollection 2019.

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

Mouna Hadrami  1 , Crystel Bonnet  2   3   4 , Christina Zeitz  5 , Fatimetou Veten  1 , Med Biya  1 , Cheikh T Hamed  1 , Christel Condroyer  5 , Panfeng Wang  6 , Med Mahmoud Sidi  7 , Sidi Cheikh  7 , Qingjiong Zhang  6 , Isabelle Audo  5   8   9 , Christine Petit  2   3   4   10   11 , Ahmed Houmeida  1
Affiliations

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

Mouna Hadrami et al. Mol Vis. .

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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Figures

Figure 1
Figure 1
Family pedigrees and DNA partial sequences showing mutations in respective genes. A: Deletion (c.217_218delTC) in exon 2 of CYP1B1 (OMIM: 601771) in blindness by glaucoma in Mauritanian family 1 (BGMF1). B: Missense mutation (c.878C>A) in exon 3 (rs139122673) of MYOC (OMIM: 60165) in BGMF2. C: Missense mutation (c.601T>G) in exon 2 of NTF4 (OMIM: 162662) in BGMF3. D: Missense mutation (c.2078A>G) in exon 18 of WDR36 in BGMF4.
Figure 2
Figure 2
Alignment of the peptides sequences of MYOC, NTF4, and WDR36 in human and other species. The CLUSTAL W (v.2.0) computer program was used for multiple alignment of amino acid sequences.
See this image and copyright information in PMC

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