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

Hearing loss secondary to variants in the OTOF gene.

International journal of pediatric otorhinolaryngology - 1 Nov 2024

Morales-Angulo Carmelo, Gallo-Terán Jaime, González-Aguado Rocío, Onecha Esther, Del Castillo Ignacio

Abstract excerpt

OBJECTIVE: Genetic variants in the OTOF gene are responsible for non-syndromic hearing loss with an autosomal recessive inheritance pattern. The objective of our work was to evaluate the clinical characteristics of patients with biallelic pathogenic variants in OTOF and their evolution after treatment. METHODS: A cohort of 124 patients with prelingual hearing loss, studied from 1996 to 2023, was included in this...

Read the complete abstract on PubMed

Topics

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

Share to Pedigree
Share to Cochlear Implantation
Share to Cochlear Implants

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Hearing Loss, Sensorineural

Share to Homozygote

Share to Infant

Share to Membrane Proteins

Source

Identifiers

PMID: 39265223
DOI: 10.1016/j.ijporl.2024.112082

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hearing loss secondary to variants in the OTOF gene.PMID 39265223Read ↗

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

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

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

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.Semantic proximity Read ↗

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

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

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

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

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

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

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