congenital hearing loss

Pathogenic gene CDH23 plays a pivotal role in tip links, which is indispensable for mechanoelectrical transduction (MET) in the hair cells. However, the underlying molecular mechanism and signal regulatory networks that influence deafness is still largely unknown. Herein, in a congenital deafness family, whole exome sequencing (WES) revealed a new mutation in the pathogenic gene cdh23, subsequently, the mutation has been validated using Sanger sequencing method. Our results showed that showed that ATP treated cdh23-/- embryos can partially recover the mutant phenotype. In conclusion, our study may shed light on deciphering the principle mechanism and provide a potential therapeutic method for congenital hearing loss under the condition of CDH23 mutation.