Evidence map›Paper›PMID 42144633›Full record

ArticleEar and hearing

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

Hongyang Wang, Kaili Wu, Jin Li, Mengqian Zhang, Xin Gao, Jing Guan, Lan Lan, Linyi Xie, Fen Xiong, Qiujing Zhang and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Ear and hearing. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Hongyang WangDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Kaili WuDepartment of Otorhinolaryngology-Head and Neck Surgery, First Hospital of Shanxi Medical University, Taiyuan, China.
Jin LiDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Mengqian ZhangDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Xin GaoDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Jing GuanDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Lan LanDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Linyi XieDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Fen XiongDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Qiujing ZhangDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Xiaochuan XuDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Danyang LiDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Dayong WangDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.
Qiuju WangDepartment of Audiovestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, the Sixth Medical Center of Chinese People's Liberation Army General Hospital, Medical School of Chinese PLA, Beijing, China.

Funding

National Key Research and Development Program of China 2023YFC2508400National Key Research and Development Program of China 2023YFC2509800
6 · The paper itself

Abstract

objectivesTo explore the correlations between genotype and phenotype, disease progression, and outcomes of interventions in patients with auditory neuropathy (AN) caused by OTOF gene variants.

designPatients 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. Audiometric tests were conducted, including auditory brainstem response, distortion product otoacoustic emission (DPOAE), behavioral audiometry/pure-tone audiometry, etc. The genetic and audiological characteristics of the patients were analyzed. The disease progression and intervention of the patients were followed up, and phenotype differences were analyzed in combination with genotype.

resultsA total of 43 AN patients were identified with OTOF gene variants, including seven novel variants. The pure-tone average was 89.20 ± 17.81 dB HL, with 91.11% having severe hearing loss or greater. The auditory steady-state response and DPOAE results deteriorated with increasing disease duration. Twenty-five patients underwent cochlear implantation, with the Category of Auditory Performance score of 7.00 (5.00, 7.50). Patients with biallelic loss-of-function variants showed a trend toward worse hearing but a higher DPOAE response rate. Similarly, patients with a single allele variant causing protein truncation also had a higher DPOAE extraction rate.

conclusionsSeven novel mutations of the OTOF gene were identified, which enriched the spectrum of OTOF gene variants. Most of the AN patients with OTOF variants showed severe to profound hearing loss, with the progression of the disease course. The cochlear implantation effects were good, which were related to the intervention age and duration. There is a correlation trend between OTOF variants' genotype and phenotype.

Indexed as

Hearing Loss, CentralMembrane ProteinsAdolescentAdultAudiometry, Pure-ToneChildChild, PreschoolChinaCochlear ImplantationDisease ProgressionEast Asian PeopleEvoked Potentials, Auditory, Brain StemFemaleGenotypeHumansInfantMembrane ProteinsOTOF protein, humanAuditory neuropathyCochlear implantationGenotypePhenotype

Identifiers

PMID42144633
PMCPMC13252965

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.