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

ABSTRACT:

Aims

This study is aimed at (1) analyzing the clinical manifestations and genetic features of a novel POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family and (2) reporting the outcomes of cochlear implantation in a patient with this mutation.

Methods

A patient who was diagnosed as the IP-III malformation underwent cochlear implantation in our hospital. The genetic analysis was conducted in his family, including the whole-exome sequencing combined with Sanger sequencing and bioinformatic analysis. Clinical features, preoperative auditory and speech performances, and postoperative outcomes of cochlear implant (CI) were assessed on the proband and his family.

Results

A novel variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was

SUBMITTER: Chao X 

PROVIDER: S-EPMC7481964 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature