Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.

ABSTRACT:

Purpose

We aim to reveal the disease-causing mutations in 15 Chinese families with optic atrophy (OA).

Methods

In total, 15 families with OA were recruited in the present study. Medical histories were carefully reviewed and comprehensive ophthalmic examinations were received by all recruited patients. Targeted next-generation sequencing (NGS) was selectively performed on all probands for mutation detection. Intrafamilial cosegregation and in-silico analyses were subsequently applied to predict the potential pathogenic effects of identified mutations.

Results

All included patients presented bilateral vision loss. Their fundus photographs showed temporal or total pallor of the optic discs. Fourteen mutations in the optic atrophy 1 (OPA1) gene were revealed as dis

SUBMITTER: Wang Y 

PROVIDER: S-EPMC6982427 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature