Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.

ABSTRACT:

Purpose

To identify null mutations in novel genes associated with early-onset high myopia using whole exome sequencing.

Methods

Null mutations, including homozygous and compound heterozygous truncations, were selected from whole exome sequencing data for 298 probands with early-onset high myopia. These data were compared with those of 507 probands with other forms of eye diseases. Null mutations specific to early-onset high myopia were considered potential candidates. Candidate mutations were confirmed with Sanger sequencing and were subsequently evaluated in available family members and 480 healthy controls.

Results

A homozygous frameshift mutation (c.39dup; p.L14Afs*21) and a compound heterozygous frameshift mutation (c.39dup; p.L14Afs*21 and c.594delG; p.Q199Kfs*35

SUBMITTER: Li J 

PROVIDER: S-EPMC4764606 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature