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Article

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.

Human molecular genetics - 1 Jan 2020

Atac David, Koller Samuel, Hanson James V M, Feil Silke, Tiwari Amit, Bahr Angela, Baehr Luzy, Magyar István, Kottke Raimund, Gerth-Kahlert Christina, Berger Wolfgang

Abstract excerpt

Optic nerve hypoplasia (ONH) is a congenital optic nerve abnormality caused by underdevelopment of retinal ganglion cells (RGCs). Despite being a rare disease, ONH is the most common optic disk anomaly in ophthalmological practice. So far, mutations in several genes have been identified as causative; however, many cases of ONH remain without a molecular explanation. The early transcription factor atonal...

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PMID: 31696227
DOI: 10.1093/hmg/ddz268

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.PMID 31696227Read ↗

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.Semantic proximity Read ↗

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.Semantic proximity Read ↗

Genetic causes of optic nerve hypoplasia.Semantic proximity Read ↗

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.Semantic proximity Read ↗

Transcriptome analysis of the zebrafish <i>atoh7−/−</i> mutant, <i>lakritz</i> , highlights Atoh7-dependent genetic networks with potential implications for human eye diseasesSemantic proximity Read ↗

Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.Semantic proximity Read ↗

Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.Semantic proximity Read ↗

Trio exome sequencing of an optic nerve hypoplasia cohort reveals evidence for polygenic architecture.Semantic proximity Read ↗

OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.Semantic proximity Read ↗

The Atoh7 remote enhancer provides transcriptional robustness during retinal ganglion cell developmentSemantic proximity Read ↗

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.Semantic proximity Read ↗

Single cell transcriptomic analyses reveal the impact of bHLH factors ATOH7 and Neurog2 on human retinal organoid developmentSemantic proximity Read ↗

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