A novel mutation of X-linked recessive deafness gene POU3F4 in a boy with congenital deafness

Rong Yu; Kai Wang; Yuanping Xiong; Hongqun Jiang

doi:10.1002/lio2.850

A novel mutation of X-linked recessive deafness gene POU3F4 in a boy with congenital deafness

Laryngoscope Investig Otolaryngol. 2022 Jul 1;7(4):1150-1154. doi: 10.1002/lio2.850. eCollection 2022 Aug.

Authors

Rong Yu¹, Kai Wang², Yuanping Xiong¹, Hongqun Jiang¹

Affiliations

¹ Department of Otorhinolaryngology First Affiliated Hospital of Nanchang University Nanchang China.
² Department of Otorhinolaryngology The 908th Hospital of Chinese People's Liberation Army Joint Logistic Support Force Nanchang China.

Abstract

Purpose: To report an interstitial deletion of Xq21.1 in chromosome X in a boy with congenital deafness.

Methods: The proband underwent a thorough physical examination and a detailed audiological and temporal bone computed tomography (CT) scan. Cochlear implantation was performed on the proband, and follow-up was conducted. High throughput sequencing and copy number analysis was made of peripheral blood samples from the proband, family members, and control subjects.

Results: Sensorineural hearing loss was present in the boy and temporal bone CT scan showed a bilateral incomplete partition type III anomaly (IP-III). Q21.1 (79.40-83.32 Mb) of chromosome X in the proband had a copy number deletion with a fragment size of about 3.92 Mb. Categories of auditory performance scores and SIR scores of the cochlea in this child improved after surgery.

Conclusion: Through the analysis of POU3F4, a novel mutation site with potentially pathogenic significance was found.Level of Evidence: 5.

Keywords: POU3F4 gene; cochlear malformation; deafness; temporal bone CT.