Frameshift variants in TBX2 underlie autosomal-dominant hearing loss with incomplete penetrance of nystagmus
Hua Wan, Yanfei Wang, Xiang Li, Lanchen Wang, Wenyu Xiong, Meilin Chen, Fengxiao Bu, Libo Liu, Mingjun Zhong, Yu Lu, Zhiyong Liu, Jing Cheng, Huijun Yuan
The paper identifies TBX2 frameshift variants as the cause of autosomal-dominant hearing loss with incomplete nystagmus penetrance, validated through linkage analysis, sequencing, and mouse models.
medRxiv · Jul 18, 2024 · PreprintGenetic & Genomic Medicine