Assessing actin-pathway interactions in variants identified in patients with ocular coloboma
Ontology highlight
ABSTRACT:
INSTRUMENT(S): micrOTOF-Q II
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Embryo, Early Embryonic Cell
DISEASE(S): Coloboma
SUBMITTER: 
Dominic Kurian
LAB HEAD: Dominic Kurian
PROVIDER: PXD005090 | Pride | 2017-05-24
REPOSITORIES: Pride
Publications
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger Joe J Williamson Kathleen A KA Soares Dinesh C DC Truch Julia J Kurian Dominic D Gillessen-Kaesbach Gabriele G Seawright Anne A Prendergast James J Halachev Mihail M Wheeler Ann A McTeir Lynn L Gill Andrew C AC van Heyningen Veronica V Davey Megan G MG FitzPatrick David R DR
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]
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