Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
Mol Vis
; 25: 373-381, 2019.
Article
en En
| MEDLINE
| ID: mdl-31367175
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Glaucoma
/
Estudios de Asociación Genética
/
Mutación
Límite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Mol Vis
Asunto de la revista:
BIOLOGIA MOLECULAR
/
OFTALMOLOGIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Mauritania