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

Xiuhua ChaoYun XiaoFengguo ZhangJianfen LuoRuijie WangWenwen LiuHaibo WangLei Xu

Published in: Neural plasticity (2020)

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.

Keyphrases

case report
type iii
hearing loss
copy number
mitochondrial dna
gene expression
metabolic syndrome
skeletal muscle
transcription factor