Frameshift variants inTBX2underlie autosomal-dominant hearing loss with incomplete penetrance of nystagmus
Wan Hua,
Yanfei Wang,
Xiang Li
et al.
Abstract:Purpose: The transcription factor TBX2 plays a critical role in inner hair cells development in mice. Yet, the link between TBX2 malfunction and human hearing-related disorders remains unexplored. Methods: Linkage analysis combined with whole genome sequencing was applied to identify the causative gene in two autosomal dominant Chinese families characterized by late-onset progressive sensorineural hearing loss and incomplete penetrance of horizontal oscillatory nystagmus. Functional evaluation of TBX2 variants… Show more
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