ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.

ABSTRACT:

Purpose

Photoreceptor degeneration (PRD) is a genetically heterogeneous retinal disorder. Although a number of genes involved in PRD have been identified, their genetic basis remains unknown in a significant number of patients. In this study, we aimed to identify novel disease-causing genes of PRD.

Methods

Comprehensive ocular examinations were performed in a 2-year-old patient diagnosed with early onset PRD. Retinal capture sequencing was performed to screen causative mutations in known retinal disease-causing loci. Whole-exome sequencing (WES) and a series of variant-filtering strategies were applied for identifying novel disease-causing genes. Retina ATF6 expression was confirmed by immunohistochemistry. RT-PCR was performed to identify ATF6 mRNA in the patient.

Result

SUBMITTER: Xu M 

PROVIDER: S-EPMC4468593 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature