Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder.

Objectives: The molecular causes of auditory neuropathy spectrum disorder (ANSD) are not well known. Identification of the pathogenic mutations underlying nonsyndromic ANSD is difficult because of its extremely heterogeneous trait. The aim of the present study was to identify the genetic etiology of a single Chinese patient diagnosed with congenital ANSD by targeted next-generation sequencing.

Methods: Targeted next-generation sequencing of 79 known deafness genes was performed in a child that was clinically diagnosed with ANSD and received cochlear implantation. Candidate pathogenic variants were confirmed by Sanger sequencing. Post-implantation outcome were evaluated in a 40 months span.

Results: Novel compound heterozygous mutations p.R1583H/p.Q1883X in OTOF were identified as the pathogenic cause of the patient, correlated with a good post-implantation outcome in terms of sound detection and communication skills.

Conclusion: Targeted next-generation sequencing is effective for molecular diagnosis of ANSD and may provide important information for clinical management of this disease.