Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

doi:10.1101/gr.196048.115

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Article

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

Genome research - 1 Apr 2016

Chassaing Nicolas, Davis Erica E, McKnight Kelly L, Niederriter Adrienne R, Causse Alexandre, David Véronique, Desmaison Annaïck, Lamarre Sophie, Vincent-Delorme Catherine, Pasquier Laurent, Coubes Christine, Lacombe Didier, Rossi Massimiliano, Dufier Jean-Louis, Dollfus Helene, Kaplan Josseline, Katsanis Nicholas, Etchevers Heather C, Faguer Stanislas, Calvas Patrick

Abstract excerpt

Ocular developmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence of 3.7 in 10,000 births. Mutations in SOX2 are the most frequent contributors to severe ODA, yet account for a minority of the genetic drivers. To identify novel ODA loci, we conducted targeted high-throughput sequencing of 407 candidate genes in an initial...

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Identifiers

PMID: 26893459
DOI: 10.1101/gr.196048.115
PMCID: PMC4817771

Genes

PTCH1
SHH
SOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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