Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.

doi:10.3390/ijms252312554

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Article

Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.

International journal of molecular sciences - 22 Nov 2024

Buianova Anastasiia A, Bazanova Marina V, Belova Vera A, Ilyina Galit A, Samitova Alina F, Shmitko Anna O, Balakina Anna V, Pavlova Anna S, Suchalko Oleg N, Korostin Dmitriy O, Machalov Anton S, Daikhes Nikolai A, Rebrikov Denis V

Abstract excerpt

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 GJB2 variants using qPCR, while ANSD patients underwent whole exome sequencing, with...

Topics

Humans
Hearing Loss, Central
Female
Male
Hearing Loss, Sensorineural
Child
Child, Preschool
Adolescent
Infant
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Connexin 26

Quality of Life

Genotype

Audiometry, Pure-Tone

Membrane Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 39684270
DOI: 10.3390/ijms252312554
PMCID: PMC11641461

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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