Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation.

Conclusion: A novel frame shift variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was identified in a Chinese family with X-linked inheritance hearing loss. A patient with this mutation and IP-III malformation could get good benefits from CI. However, the outcomes of the cochlear implantation might decline as the patient grows old.
PMID: 32952548 [PubMed - in process]

Source: Neural Plasticity - September 22, 2020 Category: Neurology Authors: Chao X, Xiao Y, Zhang F, Luo J, Wang R, Liu W, Wang H, Xu L Tags: Neural Plast Source Type: research