Familial hypertrophic cardiomyopathy associated with TBX1 variation
This study identifies familial HCM as a new phenotype linked to TBX1 gene mutations. These findings expand the mutation and phenotype spectrum of TBX1 and emphasize the need for further research to understand the mechanisms by which the c.3_27dup (p.Met10Alafs∗167) mutation leads to HCM.
Authors
- Yafei Deng (ORCID: https://orcid.org/0009-0008-1940-8336)
- Haiyan Wu (ORCID: https://orcid.org/0000-0001-5322-3425)
- Daoheng Hu (ORCID: https://orcid.org/0000-0002-8884-8318)
- Jilin Hu (ORCID: https://orcid.org/0000-0002-7897-2948)
- Lilan Wan
- Jie Zhang (ORCID: https://orcid.org/0000-0001-8199-9474)
- Fang Liu (ORCID: https://orcid.org/0000-0002-8325-1213)
- Yang Weng
- Tao� Lv (ORCID: https://orcid.org/0009-0003-7446-8191)
- Yaxin Huang
Institutions
- First People's Hospital of Yunnan Province (CN)
Publication Details
- Journal
- European Journal of Medical Genetics
- Published
- 2025-10-22
- DOI
- https://doi.org/10.1016/j.ejmg.2025.105054
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00