KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.

ABSTRACT: Congenital fibrosis of the extraocular muscles (CFEOM) is a hereditary ocular disease and can be classified into three subtypes. The aim of the present study was to determine the genetic basis and describe the clinical phenotype of CFEOM type 1 and 3. Two Chinese families with CFEOM type 1 and 3 were identified. The patients and their family members were subjected to comprehensive ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination, fundus examination, assessment of palpebral fissure size, levator function, ocular motility, and cover and forced duction tests. Genomic DNA was extracted from the leukocytes of venous blood samples collected from the two families and from 200 unrelated control subjects from the same population. Coding exons of the KIF21A gene

SUBMITTER: Chen J 

PROVIDER: S-EPMC5042766 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature