Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder

Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder

The aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD). The primary research question is whether patients with ANSD carry a pathogenic or likely pathogenic OTOF gene variant. Participants will undergo genetic analysis of the OTOF gene.

Inclusion Criteria:

1. The study will be including 30 subjects of 30 patients of both sexes of any age with congenital hearing loss and confirmed diagnosis of non-syndromic ANSD:

   A) Disproportionate speech discrimination score (SDS) with the hearing threshold level.

   B)The auditory brainstem response (ABR) test with no waveform, disturbed waves, nor detectable wave V at high intense stimulus.

   C) The otoacoustic emission (OAE) and/or cochlear microphonic (CM) potential may be present.

2. Informed consent.

Exclusion Criteria:

• 1) Known acquired risk factors of ANSD as preterm, hypoxia, hyperbilirubinemia. 2) Conductive hearing loss. 3) Syndromic ANSD hearing loss. 3) Binaural cochlear implants. 4) Inner ear malformation, cochlear nerve aplasia or hypoplasia.