A novel missense <i>TUBB4B</i> variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss
This report expands the mutation spectrum and phenotypic range of TUBB4B-associated retinopathies beyond the R390/R391 hotspot and may offer insight into the pathogenesis of this rare tubulinopathy.
Authors
- Emily H. Jung (ORCID: https://orcid.org/0000-0001-8496-7806)
- Siying Lin (ORCID: https://orcid.org/0000-0003-1122-8396)
- Beau James Fenner (ORCID: https://orcid.org/0000-0002-5356-7604)
- Anna Duemler (ORCID: https://orcid.org/0000-0002-5454-5079)
- Elena Schiff (ORCID: https://orcid.org/0000-0002-9848-1302)
- Alessandro Iannaccone (ORCID: https://orcid.org/0000-0001-5737-8424)
- Omar A. Mahroo (ORCID: https://orcid.org/0000-0003-1254-0832)
- Sarah Richards
- Oleg Alekseev (ORCID: https://orcid.org/0000-0002-1179-194X)
- Ramiro S. Maldonado (ORCID: https://orcid.org/0000-0002-8440-2095)
- Andrew R Webster
- Lauren Y. Cao
Institutions
- GenVec (US)
- University of North Carolina at Chapel Hill (US)
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- Duke University (US)
- Singapore National Eye Center (SG)
- Manchester Royal Eye Hospital (GB)
- University of Manchester (GB)
- Manchester University NHS Foundation Trust (GB)
- Astellas Pharma (United Kingdom) (GB)
- Singapore Eye Research Institute (SG)
- Moorfields Eye Hospital (GB)
- Genomics (United Kingdom) (GB)
- Astellas Pharma (United States) (US)
- University College London (GB)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-10-07
- DOI
- https://doi.org/10.1080/13816810.2025.2565651
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00