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Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder
Sponsor: Sohag University
Summary
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.
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
30
Start Date
2026-08
Completion Date
2027-02
Last Updated
2026-08-21
Healthy Volunteers
No
Interventions
Whole exome sequencing.
Whole exome sequencing (WES) will be performed on a biological sample obtained from each eligible participant to analyze the protein-coding regions of the genome. The analysis will specifically assess the OTOF gene for genetic variants associated with auditory neuropathy spectrum disorder (ANSD), while other clinically relevant variants identified through the sequencing may also be documented according to the study protocol. Identified OTOF variants will be classified according to established variant-interpretation criteria.
Locations (1)
Faculty of medicine, Sohag University
Sohag, Sohag Governorate, Egypt