The Genetic Causes of Auditory Neuropathy: A Systematic Review

/Objectives: Auditory neuropathy is a form of hearing loss marked by preserved outer hair cell function and abnormal or absent auditory brainstem responses. Monogenic causes play a significant role in its aetiology. This systematic review aims to identify the genetic causes of auditory neuropathy reported in the literature and to determine the diagnostic yield of genetic testing in affected individuals.

Genetic testing for auditory neuropathy is clinically meaningful because the causative gene can influence cochlear implant candidacy and expected outcomes; audiologists should advocate for genetic workup in confirmed auditory neuropathy cases.

Identifying the genetic cause of auditory neuropathy is increasingly important for precision management, particularly in determining cochlear implant suitability and predicting post-implant performance.

1. 01Systematic review of single-gene (monogenic) causes of auditory neuropathy spectrum disorder (ANSD).
2. 02ANSD is characterized by normal outer hair cell function but absent or abnormal auditory brainstem responses (ABRs).
3. 03Multiple genes implicated — including OTOF, DIAPH3, and AIFM1 — with distinct pathophysiology and prognosis.
4. 04Genetic etiology can predict cochlear implant outcomes; e.g., OTOF mutations typically yield strong CI benefit.
5. 05Review underscores the importance of integrating genetic testing into the ANSD diagnostic pathway.

PMID

42279121

DOI

10.3390/jcm15114260.

Journal

Journal of Clinical Medicine

Publication type

systematic_review

Evidence level

1a

Population

Patients with auditory neuropathy spectrum disorder with identified monogenic causes

Intervention

Genetic characterization of auditory neuropathy causes