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Article

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

American journal of human genetics - 1 Sept 2000

Yasunaga S, Grati M, Chardenoux S, Smith T N, Friedman T B, Lalwani A K, Wilcox E R, Petit C

Abstract excerpt

We have recently reported that OTOF underlies an autosomal recessive form of prelingual sensorineural deafness, DFNB9. The isolated 5-kb cDNA predicted a 1,230 amino acid (aa) C-terminus membrane-anchored cytosolic protein with three C2 domains. This protein belongs to a family of mammalian prote...

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Identifiers

PMID: 10903124
DOI: 10.1086/303049
PMCID: PMC1287519

Genes

OTOF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10903124-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.PMID 10903124Read ↗

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.Semantic proximity Read ↗

Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.Semantic proximity Read ↗

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

A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.Semantic proximity Read ↗

Transcriptomics and phenotypic analysis of OTOF gene knockdown in zebrafish mediated by CRISPR/Cas9.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 ↗

Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in DFNB9 deafness.Semantic proximity Read ↗

Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature.Semantic proximity Read ↗

The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.Semantic proximity Read ↗

Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin.Semantic proximity Read ↗

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

Otoferlin: a multi-C2 domain protein essential for hearing.Semantic proximity Read ↗

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