A Novel <i>EYA1</i> Splicing Mutation in a Chinese Family With Branchio-Oto Syndrome: A Functional Analysis and Reproductive Intervention
We identified a novel splicing variant in the EYA1 gene and elucidated its potential molecular pathogenic mechanism through several functional experiments. Based on these findings, we successfully implemented PGT to ensure the birth of a healthy offspring free from BOS.
Authors
- Yalan Liu (ORCID: https://orcid.org/0000-0001-9350-3130)
- Lu Jiang (ORCID: https://orcid.org/0000-0003-2400-2214)
- Jian Song (ORCID: https://orcid.org/0009-0008-8628-5292)
- He Chufeng
- Mei Lingyun
- Chen Anhai
- Nie Zequn
Institutions
- Central South University (CN)
- Hunan Provincial Center for Disease Control and Prevention (CN)
- National Clinical Research Center for Digestive Diseases (CN)
- National Clinical Research (US)
- Xiangya Hospital Central South University (CN)
Publication Details
- Journal
- Clinical and Experimental Otorhinolaryngology
- Published
- 2025-02-03
- DOI
- https://doi.org/10.21053/ceo.2024.00304
- Primary Topic
- Head and Neck Anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Central South University
- Xiangya Hospital, Central South University