Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption
Our findings establish TCOF1 as the primary pathogenic gene in this Chinese TCS cohort, with mutations predominantly in the CRD and CTD, thereby expanding the known mutation spectrum of TCS and informing its prevention strategies.
Authors
- Hailin Shan
- Yong‐Biao Zhang (ORCID: https://orcid.org/0000-0002-2764-2148)
- Qingguo Zhang (ORCID: https://orcid.org/0000-0002-0172-9579)
- Baichuan Xiao (ORCID: https://orcid.org/0000-0001-7608-8043)
- Qi Chen (ORCID: https://orcid.org/0000-0001-6353-9589)
- Hao Zhu (ORCID: https://orcid.org/0000-0002-6507-8904)
- Ying Li (ORCID: https://orcid.org/0000-0002-1800-0901)
- Huisheng Liu (ORCID: https://orcid.org/0000-0001-5371-7943)
- Ke Mao (ORCID: https://orcid.org/0000-0001-8440-9740)
- Shouqin Zhao (ORCID: https://orcid.org/0000-0001-5974-2701)
- Bingqing Wang (ORCID: https://orcid.org/0000-0001-8737-4563)
- R. E. Lang
- Zhuoyuan Jiang
- Jiqiang Liu (ORCID: https://orcid.org/0009-0000-5576-9587)
Institutions
- Beijing Tongren Hospital (CN)
- Capital Medical University (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Guangzhou Regenerative Medicine and Health Guangdong Laboratory (CN)
- Beihang University (CN)
- Ministry of Industry and Information Technology (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-02-07
- DOI
- https://doi.org/10.1186/s13023-024-03508-z
- Citations
- 5
- Primary Topic
- Craniofacial Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 9.09
Funders
- National Natural Science Foundation of China
- Chinese Academy of Medical Sciences
- Peking Union Medical College
- Bijzonder Onderzoeksfonds UGent