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

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

Ear and hearing - 1 Jan 2026

Wang Hongyang, Wu Kaili, Li Jin, Zhang Mengqian, Gao Xin, Guan Jing, Lan Lan, Xie Linyi, Xiong Fen, Zhang Qiujing, Xu Xiaochuan, Li Danyang, Wang Dayong, Wang Qiuju

Abstract excerpt

OBJECTIVES: To explore the correlations between genotype and phenotype, disease progression, and outcomes of interventions in patients with auditory neuropathy (AN) caused by OTOF gene variants. DESIGN: Patients with AN associated with OTOF variants were identified using whole-exome or panel sequencing. Variants were interpreted according to the American College of Medical Genetics and Genomics guidelines....

Read the complete abstract on PubMed

Topics

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

Share to Audiometry, Pure-Tone
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cochlear Implantation

Share to Disease Progression

Share to East Asian People

Share to Evoked Potentials, Auditory, Brain Stem

Share to Membrane Proteins

Share to Otoacoustic Emissions, Spontaneous

Source

Open in PubMed Open full text

Identifiers

PMID: 42144633
DOI: 10.1097/AUD.0000000000001801
PMCID: PMC13252965

Genes

OTOF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Audiological Phenotype, Natural History, and Intervention in Chinese Patients With Auditory Neuropathy Caused by OTOF Variants.PMID 42144633Read ↗

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 ↗

Detailed Clinical Features and Genotype-Phenotype Correlation in an OTOF-Related Hearing Loss Cohort in JapanSemantic proximity Read ↗

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

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

Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder.Semantic proximity Read ↗

Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.Semantic proximity Read ↗

Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families.Semantic proximity Read ↗

[The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy].Semantic proximity Read ↗

Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.Semantic proximity Read ↗

Auditory Neuropathy Spectrum Disorder (ANSD)-Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families.Semantic proximity Read ↗

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.Semantic proximity Read ↗

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