Trio exome sequencing of an optic nerve hypoplasia cohort reveals evidence for polygenic architecture
Mutationally constrained genes with potentially pathogenic mutations were enriched in gene ontologies related to neuro developmental processes, were expressed in RGCs at significantly higher levels than random exome variant genes, and were enriched in autism and NDD-associated genes. Including the genes with strong genetic effect variants, these analyses call attention to 161 genes with potentially pathogenic variants that may contribute polygenic risk for ONH.
Authors
- Mark Borchert (ORCID: https://orcid.org/0000-0003-4704-9795)
- Jennifer G. Aparicio (ORCID: https://orcid.org/0000-0002-6442-3032)
- Wenhui Laura Li
- Carly Stewart (ORCID: https://orcid.org/0000-0002-2723-4902)
- David Cobrinik (ORCID: https://orcid.org/0000-0002-4478-2417)
- Kevin Stachelek (ORCID: https://orcid.org/0000-0003-2085-695X)
- David W. Craig (ORCID: https://orcid.org/0000-0003-2040-1955)
- Brianne Brown (ORCID: https://orcid.org/0000-0002-0852-1981)
- Pamela Garcia‐Filion
Institutions
- University of Southern California (US)
- Children's Hospital of Los Angeles (US)
- University of Arizona (US)
- California Southern University (US)
- Southern California Eye Institute (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-08-31
- DOI
- https://doi.org/10.1080/13816810.2025.2540400
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Knights Templar Eye Foundation