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Article

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

Human mutation - 1 Aug 2017

Rainger Joe, Williamson Kathleen A, Soares Dinesh C, Truch Julia, Kurian Dominic, Gillessen-Kaesbach Gabriele, Seawright Anne, Prendergast James, Halachev Mihail, Wheeler Ann, McTeir Lynn, Gill Andrew C, van Heyningen Veronica, Davey Megan G, FitzPatrick David R

Abstract excerpt

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...

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Source

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Identifiers

PMID: 28493397
DOI: 10.1002/humu.23246
PMCID: PMC5518294

Genes

ACTG1
LCP1
TWF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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