Exome Sequence Analysis of 14 Families With High Myopia.

ABSTRACT:

Purpose

To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing.

Methods

Select individuals from 14 large Caucasian families with high myopia were exome sequenced. Gene variants were filtered to identify potential pathogenic changes. Sanger sequencing was used to confirm variants in original DNA, and to test for disease cosegregation in additional family members. Candidate genes and chromosomal loci previously associated with myopic refractive error and its endophenotypes were comprehensively screened.

Results

In 14 high myopia families, we identified 73 rare and 31 novel gene variants as candidates for pathogenicity. In seven of these families, two of the novel and eight of the rare variants were within known m

SUBMITTER: Kloss BA 

PROVIDER: S-EPMC5382835 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature