Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.

ABSTRACT:

Background

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far, mutations in more than 20 genes have been known to cause LCA and among them, RPE65 is a suitable candidate for gene therapy. The mutational screenings of RPE65 and other LCA genes are requisite in support of emerging gene specific therapy for LCA. Therefore, we have carried out a comprehensive LCA genes screening using a combined approach of direct sequencing and DNA microarray based Asper chip analysis.

Methodology/principal findings

Thirty clinically diagnosed index LCA cases from Southern India were screened for coding and flanking intronic regions of RPE65 through direct sequencing. Among thirty, 25 cases excluded from RPE65 mutations were subje

SUBMITTER: Verma A 

PROVIDER: S-EPMC3774716 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature