Ontology highlight
ABSTRACT:
SUBMITTER: Rainger J
PROVIDER: S-EPMC5518294 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Human mutation 20170606 8
Ocular coloboma (OC) is a defect in optic fissure closure and is a common cause of severe congenital visual impairment. Bilateral OC is primarily genetically determined and shows marked locus heterogeneity. Whole-exome sequencing (WES) was used to analyze 12 trios (child affected with OC and both unaffected parents). This identified de novo mutations in 10 different genes in eight probands. Three of these genes encoded proteins associated with actin cytoskeleton dynamics: ACTG1, TWF1, and LCP1. ...[more]