The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

ABSTRACT:

Background

Identification of the causative genes of retinitis pigmentosa (RP) is important for the clinical care of patients with RP. However, a comprehensive genetic study has not been performed in Korean RP patients. Moreover, the genetic heterogeneity found in sensorineural genetic disorders makes identification of pathogenic mutations challenging. Therefore, high throughput genetic testing using massively parallel sequencing is needed.

Results

Sixty-two Korean patients with nonsyndromic RP (46 patients from 18 families and 16 simplex cases) who consented to molecular genetic testing were recruited in this study and targeted exome sequencing was applied on 53 RP-related genes. Causal variants were characterised by selecting exonic and splicing variants, selecting variants

SUBMITTER: Yoon CK 

PROVIDER: S-EPMC4496857 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature