Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.
Mol Vis
; 25: 106-117, 2019.
Article
en En
| MEDLINE
| ID: mdl-30820146
ABSTRACT
Purpose:
Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss. IRDs include a wide spectrum of disorders, such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and Stargardt disease (STGD1).Methods:
In this study, we performed targeted next-generation sequencing based on molecular inversion probes (MIPs) that allowed the sequence analysis of 108 IRD-associated genes in 50 Iranian IRD probands.Results:
The sequencing and variant filtering led to the identification of putative pathogenic variants in 36 out of 50 (72%) probands. Among 36 unique variants, we identified 20 novel variants in 15 genes. Four out of 36 probands carry compound heterozygous variants, and 32 probands carry homozygous variants.Conclusions:
Employing a cost-effective targeted next-generation sequencing procedure, we identified the genetic causes of different retinal disorders in the majority of Iranian families in this study.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Retinitis Pigmentosa
/
Proteínas del Ojo
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Amaurosis Congénita de Leber
/
Distrofias de Conos y Bastones
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Degeneración Macular
/
Mutación
Límite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Mol Vis
Asunto de la revista:
BIOLOGIA MOLECULAR
/
OFTALMOLOGIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Canadá