Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders

Overview

Journal Int J Mol Sci

Publisher MDPI

Specialties Biochemistry
Chemistry
Molecular Biology

Date 2024 Dec 17

PMID 39684270

Authors

Anastasiia A Buianova

Marina V Bazanova

Vera A Belova

Galit A Ilyina

Alina F Samitova

Anna O Shmitko

Anna V Balakina

Anna S Pavlova

Oleg N Suchalko

Dmitriy O Korostin

Anton S Machalov

Nikolai A Daikhes

Denis V Rebrikov

Affiliations

Soon will be listed here.

Abstract

Auditory neuropathy spectrum disorder (ANSD) is often missed by standard hearing tests, accounting for up to 10% of hearing impairments (HI) and commonly linked to variants in 23 genes. We assessed 122 children with HI, including 102 with sensorineural hearing loss (SNHL) and 20 with ANSD. SNHL patients were genotyped for common variants using qPCR, while ANSD patients underwent whole exome sequencing, with variants analyzed across 249 genes. Homozygous variants were found in 54.9% of SNHL patients. In 60% of ANSD patients, variants were detected in (25%), , , and genes, including eight novel variants. Transient evoked otoacoustic emissions testing revealed differences at 4000 Hz ( = 0.0084) between the ANSD and SNHL groups. The auditory steady-state response (ASSR) test showed significant differences at 500 Hz ( = 2.69 × 10) and 1000 Hz ( = 0.0255) compared to pure-tone audiometry (PTA) in ANSD patients. Our questionnaire shows that the parents of children with SNHL often report an improved quality of life with hearing aids or cochlear implants, while parents of children with ANSD frequently experience uncertainty about outcomes ( = 0.0026), leading to lower satisfaction.

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