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Article

[Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment].

Acta otorrinolaringologica espanola - 1 Jan 2000

Gallo-Terán J, Morales-Angulo C, Sánchez N, Manrique M, Rodríguez-Ballesteros M, Moreno-Pelayo M A, Moreno E, del Castillo I

Abstract excerpt

We report an infant with auditory neuropathy secondary to the Q829X mutation in the gene encoding otoferlin (OTOF). Included in a universal newborn hearing screening program, the subject passed the otoacoustic emission (OAEs) test. Given that the infant had a familial history of deafness auditory...

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Source

Identifiers

PMID: 17036997
DOI: 10.1016/s0001-6519(06)78722-2

Genes

OTOF
ABR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17036997-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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[Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment].PMID 17036997Read ↗

[Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene].Semantic proximity Read ↗

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).Semantic proximity Read ↗

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.Semantic proximity Read ↗

Hearing loss secondary to variants in the OTOF gene.Semantic proximity Read ↗

Novel OTOF mutations in Brazilian patients with auditory neuropathy.Semantic proximity Read ↗

Five new OTOF gene mutations and auditory neuropathy.Semantic proximity Read ↗

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.Semantic proximity Read ↗

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.Semantic proximity Read ↗

Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families.Semantic proximity Read ↗

Molecular approach of auditory neuropathy.Semantic proximity Read ↗

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.Semantic proximity Read ↗

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