Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

ABSTRACT: Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophies and the most frequent cause of congenital blindness in children. To date, 25 genes have been implicated in the pathogenesis of this rare disorder. Performing an accurate molecular diagnosis is crucial as gene therapy is becoming available. This study aimed to report the molecular basis of Leber congenital amaurosis, especially novel and rare variants in 27 Polish families with a clinical diagnosis of LCA fully confirmed by molecular analyses. Whole exome sequencing or targeted next-generation sequencing (NGS) of inherited retinal dystrophies-associated (IRD) genes was applied to identify potentially pathogenic variants. Bidirectional Sanger sequencing and quantitative PCR (qPCR) were carried out for v

SUBMITTER: Skorczyk-Werner A 

PROVIDER: S-EPMC9837007 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature