A Novel Variant in <scp><i>TUBB4B</i></scp> Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss
These findings expand the limited number of disease-causing TUBB4B variants, corroborating their association with SND forms, and suggest Lys350 is an important residue for β-tubulin function. Interestingly, our results demonstrate that TUBB4B mutations can cause cone-dominated retinal phenotypes.
Authors
- Gennaro Auletta (ORCID: https://orcid.org/0000-0003-1548-7141)
- Marianthi Karali (ORCID: https://orcid.org/0000-0003-0757-3330)
- Anna Nesti
- Rosa Boccia (ORCID: https://orcid.org/0000-0001-5252-6256)
- Sandro Banfi (ORCID: https://orcid.org/0000-0002-6541-8833)
- Francesco Testa (ORCID: https://orcid.org/0000-0002-1482-1577)
- Roberta Zeuli (ORCID: https://orcid.org/0000-0003-1783-3415)
- Margherita Scarpato
- Francesca Simonelli
Institutions
- University of Campania "Luigi Vanvitelli" (IT)
- Telethon Institute Of Genetics And Medicine (IT)
- University of Naples Federico II (IT)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-01-29
- DOI
- https://doi.org/10.1002/mgg3.70068
- Citations
- 4
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.22
Funders
- Ministero dell'Università e della Ricerca