Evidence map›Paper›PMID 39858604›Full record

ArticleGenes2025

The Heterozygous p.A684V Variant in the

Shintaro Otsuka, Chihiro Morimoto, Shin-Ya Nishio, Shinya Morita, Daisuke Kikuchi, Masahiro Takahashi, Kozo Kumakawa, Yasuhiro Arai, Hajime Sano, Hidekane Yoshimura and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

1 citing paper in PubMed.

  1. Article
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

16 authors.

Shintaro OtsukaDepartment of Otolaryngology-Head and Neck Surgery, Nara Medical University, Kashihara 634-8522, Japan.
Chihiro MorimotoDepartment of Otolaryngology-Head and Neck Surgery, Nara Medical University, Kashihara 634-8522, Japan.
Shin-Ya NishioDepartment of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.ORCID 0000-0001-6640-2297
Shinya MoritaDepartment of Otolaryngology-Head and Neck Surgery, Hokkaido University, Sapporo 060-8648, Japan.ORCID 0000-0002-2429-9751
Daisuke KikuchiDepartment of Otolaryngology, Fukushima Medical University, Fukushima 960-1295, Japan.
Masahiro TakahashiDepartment of Otorhinolaryngology, International University of Health and Welfare Mita Hospital, Tokyo 108-8329, Japan.
Kozo KumakawaDepartment of Otolaryngology, Akasaka Toranomon Clinic, Tokyo 107-0052, Japan.
Yasuhiro AraiDepartment of Otorhinolaryngology, Head and Neck Surgery, Yokohama City University, Yokohama 236-0004, Japan.
Hajime SanoDepartment of Otorhinolaryngology and Head & Neck Surgery, Kitasao University, Sagamihara 252-0375, Japan.
Hidekane YoshimuraDepartment of Otorhinolaryngology-Head and Neck Surgery, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.ORCID 0000-0001-9601-7496
Norio YamamotoDepartment of Otolaryngology, Kobe City Medical Center General Hospital, Kobe 650-0047, Japan.ORCID 0000-0001-8924-0710
Shunsuke KondoDepartment of Otorhinolaryngology, Head and Neck Surgery, University of the Ryukyus, Okinawa 903-0215, Japan.
Mari HasegawaDepartment of Pediatrics, Nara Medical University, Kashihara 634-8522, Japan.ORCID 0000-0001-9169-9707
Tomo NishiDepartment of Ophthalmology, Nara Medical University, Kashihara 634-8522, Japan.
Tadashi KitaharaDepartment of Otolaryngology-Head and Neck Surgery, Nara Medical University, Kashihara 634-8522, Japan.
Shin-Ichi UsamiDepartment of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.ORCID 0000-0002-5068-6122

Funding

Japan Agency for Medical Research and Development JP16kk0205010、JP18ek0109363, JP19dk0310097, JP19kk0205023, JP21ek0109542, JP24ek0109741Ministry of Health, Labor and Welfare of Japan 20FC1048, 23FC0201Wellcome Trust FC001048
6 · The paper itself

Abstract

BACKGROUND/

objectivesA heterozygous mutation in the

methodsWe report the clinical details of 14 cases with a heterozygous p.A684V variant in the

resultsAmong the 14 patients from 13 families with the p.A684V variant, nine were sporadic cases. In addition, we confirmed de novo occurrence of this variant in seven families. This result strongly supports the notion that this variant was located on a mutational hotspot. When comparing previously reported cases of autosomal dominant

conclusionsThe identified heterozygous p.A684V variant appears to be a hotspot mutation and likely to cause severe-to-profound hearing loss in early childhood. Cochlear implantation is considered favorable in cases of hearing impairment due to this variant.

Indexed as

Hearing LossHearing Loss, SensorineuralMembrane ProteinsMutationAdolescentAdultChildChild, PreschoolFemaleHeterozygoteHumansMaleMiddle AgedPedigreePhenotypeWolfram SyndromeMembrane Proteinswolframin proteincochlear implantDFNA6/14/38diabetes mellitusgenotype–phenotype correlationhearing aidnon-syndromic hearing lossoptic atrophyWFS1Wolfram-like syndrome

Identifiers

PMID39858604
PMCPMC11764508

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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.