Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.

ABSTRACT:

Purpose

To investigate the efficacy of targeted exome sequencing for mutational screening of Japanese patients with cone dystrophy (CD) or cone-rod dystrophy (CRD).

Methods

DNA samples from 43 Japanese patients with CD or CRD were sequenced using an exome-sequencing panel targeting all 193 known inherited eye disease genes and next-generation sequencing methodologies. Subsequently, candidate variants were screened using systematic data analyses, and their potential pathogenicity was assessed using distinct filtering approaches, which included the frequency of the variants in normal populations, in silico prediction tools, and cosegregation.

Results

Causative mutations were detected in 12 patients with CD or CRD (27.9%). In total, 14 distinct mutations were identified

SUBMITTER: Oishi M 

PROVIDER: S-EPMC4764614 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature