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Article

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

Journal of medical genetics - 1 Jul 2002

Migliosi V, Modamio-Høybjør S, Moreno-Pelayo M A, Rodríguez-Ballesteros M, Villamar M, Tellería D, Menéndez I, Moreno F, Del Castillo I

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12114484
DOI: 10.1136/jmg.39.7.502
PMCID: PMC1735186

Genes

OTOF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.PMID 12114484Read ↗

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 ↗

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

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

[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 ↗

Replication of missense OTOG gene variants in a Brazilian cohort of Menière’s DiseaseSemantic proximity Read ↗

The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.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 ↗

Novel heterozygous mutations in the otogelin-like (OTOGL) gene in a child with bilateral mild nonsyndromic sensorineural hearing loss.Semantic proximity Read ↗

Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.Semantic proximity Read ↗

Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir.Semantic proximity Read ↗

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

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