The Genetic Basis of Auditory Neuropathy Spectrum Disorder

Majid  Karimi; Mohsen  Ahadi; Mohammad  Ajalloueyan; Nader  Saki; Saeid  Morovvati; Golshan  Mirmomeni

doi:10.18502/jmr.v20i1.21021

Majid Karimi Department of Audiology, Rehabilitation Research Centre, School of Rehabilitation Sciences, Iran University of Medical Sciences, Tehran, Iran.
Mohsen Ahadi Department of Audiology, Rehabilitation Research Centre, School of Rehabilitation Sciences, Iran University of Medical Sciences, Tehran, Iran.
Mohammad Ajalloueyan Department of Otorhinolaryngology, Baqiyatallah Hospital, Baqiyatallah University of Medical Sciences, Tehran, Iran.
Nader Saki Department of Otolaryngology, Head and Neck Surgery, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Saeid Morovvati Faculty of Advanced Sciences and Technology, TeMS.c., Islamic Azad University, Tehran, Iran.
Golshan Mirmomeni Hearing Research Center, Clinical Sciences Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

DOI: https://doi.org/10.18502/jmr.v20i1.21021

Keywords: Auditory neuropathy; Genetic mutation; Hearing loss

Abstract

Introduction: Despite normal outer hair cell function, auditory neuropathy spectrum disorder (ANSD) disrupts neural coordination and impairs speech comprehension, especially in noisy environments.This review study explores the genetic mechanisms underlying ANSD.

Materials and Methods: PubMed, Scopus, and Web of Science were searched from 2010 to 2023 for studies on ANSD genetics, excluding those focused on non-genetic causes or lacking relevant data.

Results: ANSD is associated with conditions such as Brown-Vialetto-Van Laere syndrome (BVVL) and Charcot-Marie-Tooth (CMT) disease, often resulting from mutations in the auditory nerve. Nonsyndromic ANSD is associated with genes such as OTOF and PJVK, which are essential for neural function.

Conclusion: ANSD is a multifactorial condition resulting from genetic mutations in key genes, which disrupt auditory pathways and impair sound signal transmission. Further research is needed to identify additional genes and understand molecular mechanisms contributing to ANSD. This knowledge will improve diagnosis, prognosis, and therapeutic strategies, and could lead to innovative treatment approaches in the future.