Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.

Ear and hearing - 1 Jan 2000

Santarelli Rosamaria, Scimemi Pietro, Costantini Marco, Domínguez-Ruiz María, Rodríguez-Ballesteros Montserrat, Del Castillo Ignacio

Abstract excerpt

OBJECTIVES: Congenital profound hearing loss with preserved cochlear outer hair cell activity (otoacoustic emissions and cochlear microphonic) is the most common phenotype associated with mutations in the OTOF gene. The aim of this study was to investigate the pathophysiological mechanisms behind the auditory dysfunction in five patients (2 adults and 3 children) carrying biallelic mutations in OTOF, who showed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Auditory Threshold
Share to Cochlea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Evoked Potentials, Auditory, Brain Stem

Share to Hearing Loss

Share to Membrane Proteins

Share to Mutation

Share to Otoacoustic Emissions, Spontaneous

Share to Speech Perception

Source

Open in PubMed Open full text

Identifiers

PMID: 33908410
DOI: 10.1097/AUD.0000000000001052
PMCID: PMC9973442

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.PMID 33908410Read ↗

Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations.Semantic proximity Read ↗

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

Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.Semantic proximity Read ↗

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

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

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

Results of cochlear implantation in two children with mutations in the OTOF gene.Semantic proximity Read ↗

Audiological Phenotype, Natural History, and Intervention in Chinese Patients With Auditory Neuropathy Caused by OTOF Variants.Semantic proximity Read ↗

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

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

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

Auditory neuropathy or endocochlear hearing loss?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.