Identification of a novelRPGRIP1mutation in an Iranian family with leber congenital amaurosis by exome sequencing
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چکیده
منابع مشابه
Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing
Leber congenital amaurosis (LCA) is a heterogeneous, early-onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease-causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomogr...
متن کاملDiagnostic application of clinical exome sequencing in Leber congenital amaurosis
PURPOSE Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA. METHODS A total of nine unrelated Korean patients with LCA were sequenced using the Illumina TruSight One panel, which targ...
متن کاملIdentification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts
PURPOSE To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family. METHODS The diagnosis was established in all affected individuals of a Pakistani LCA family by medical history, funduscopy, and standard ERG. We performed genome-wide linkage analysis for mapping the disease locus in this family. RESULTS Congenitally severely ...
متن کاملLeber congenital amaurosis
Key words Disease name /synonyms Definition / Diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counseling Prenatal diagnosis Management including treatment Unresolved questions References Abstract Leber congenital amaurosis (LCA) is a retinal dystrophy and/or dysplasia of prenatal onset. About 10 to 20% of blind children are though...
متن کاملWhole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy
Objective(s): Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction of whole exome sequencing (WES) to capture all the exons may help to fin...
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ژورنال
عنوان ژورنال: Journal of Cellular and Molecular Medicine
سال: 2017
ISSN: 1582-1838
DOI: 10.1111/jcmm.13454