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Article

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

Acta otorrinolaringologica espanola - 1 Mar 2004

Gallo-Terán J, Megía López R, Morales-Angulo C, del Castillo I, Moreno-Pelayo M A, Mazón Gutiérrez A, Moreno Herrero F

Abstract excerpt

OBJECTIVE: To determine the features of hearing loss due to the Q829X mutation in the OTOF gene, the third most frequent mutation causing prelingual deafness reported so far in the Spanish population. MATERIALS AND METHODS: We carried out genetic characterisation of 16 individuals from a consanguineous family from Cantabria, in which 4 members were affected by deafness. RESULTS: All 4 hearing impaired individuals...

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Source

Identifiers

PMID: 15253338
DOI: 10.1016/s0001-6519(04)78494-0

Genes

OTOF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

[Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene].PMID 15253338Read ↗

Hearing loss secondary to variants in the OTOF gene.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 ↗

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

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

Novel OTOF mutations in Brazilian patients with 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 ↗

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

The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family.Semantic proximity Read ↗

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

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.Semantic proximity Read ↗

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.Semantic proximity Read ↗

Evidence for genotype-phenotype correlation for OTOF mutations.Semantic proximity Read ↗

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