Heterozygous <i>TBX2</i> frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus
These findings establish <i>TBX2</i> as a novel gene for syndromic HL, defining a new autosomal dominant disorder characterised by progressive HL with variable nystagmus. This discovery expands the spectrum of T-box transcription factor disorders and informs molecular diagnosis and genetic counselling in hereditary HL.
Authors
- Huijun Yuan (ORCID: https://orcid.org/0000-0002-4173-7688)
- Mingjun Zhong (ORCID: https://orcid.org/0000-0002-1525-1270)
- Zhiyong Liu (ORCID: https://orcid.org/0000-0002-9675-1233)
- Fengxiao Bu (ORCID: https://orcid.org/0000-0002-4882-4856)
- Xiang Li (ORCID: https://orcid.org/0000-0002-0098-9133)
- Lanchen Wang
- Fangyi Chen (ORCID: https://orcid.org/0000-0002-5024-6215)
- Yanfei Wang (ORCID: https://orcid.org/0000-0002-4043-0967)
- Yu Lu (ORCID: https://orcid.org/0009-0000-1243-3389)
- Libo Liu (ORCID: https://orcid.org/0000-0003-0722-6398)
- Hua Wan (ORCID: https://orcid.org/0000-0003-2946-5613)
- Meilin Chen (ORCID: https://orcid.org/0000-0002-1981-3082)
- Jing Cheng (ORCID: https://orcid.org/0009-0009-8746-0125)
- Wenyu Xiong (ORCID: https://orcid.org/0009-0005-9285-8825)
Institutions
- Chinese Academy of Sciences (CN)
- Sichuan University (CN)
- Beijing Chao-Yang Hospital, Capital Medical University (CN)
- Southern University of Science and Technology (CN)
- Guangdong Polytechnic of Science and Technology (CN)
- National Institute of Biological Sciences, Beijing (CN)
- West China Hospital of Sichuan University (CN)
- Center for Excellence in Brain Science and Intelligence Technology (CN)
- Zhuhai Institute of Advanced Technology (CN)
- Tsinghua University (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-09-17
- DOI
- https://doi.org/10.1136/jmg-2025-110997
- Citations
- 1
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 1.46
Funders
- National Natural Science Foundation of China
- Department of Science and Technology of Sichuan Province
- Sichuan University
- West China Hospital, Sichuan University