Evidence map›Paper›PMID 38550477›Full record

ArticleCureus2024

Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma.

Kosuke Hashimoto, Toru Miwa, Chie Ono, Kiyomitsu Nara, Hideki Mutai, Toshiyuki Seto, Hirokazu Sakamoto, Tatsuo Matsunaga

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cureus, 2024. 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
0.2field-weighted citation impact, top 47% of its field
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 citations in OpenAlex.

  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

8 authors at 4 institutions in 2 countries.

Kosuke HashimotoDepartment of Otolaryngology, Osaka Metropolitan University, Osaka, JPN.
Toru MiwaDepartment of Otolaryngology, Osaka Metropolitan University, Osaka, JPN.
Chie OnoDepartment of Clinical Genomics, Osaka Metropolitan University, Osaka, JPN.
Kiyomitsu NaraDivision of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization (NHO) Tokyo Medical Center, Tokyo, JPN.
Hideki MutaiDivision of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization (NHO) Tokyo Medical Center, Tokyo, JPN.
Toshiyuki SetoDepartment of Clinical Genomics, Osaka Metropolitan University, Osaka, JPN.
Hirokazu SakamotoDepartment of Otolaryngology, Osaka Metropolitan University, Osaka, JPN.
Tatsuo MatsunagaDivision of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization (NHO) Tokyo Medical Center, Tokyo, JPN.
Kyoto University · JPMetropolitan University · VEThe University of Osaka · JPOsaka Metropolitan University

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this study, we report a case of bilateral mild hearing loss and keratoderma caused by a gap junction beta-2 (GJB2) variant. The proband was a nine-year-old Japanese boy with bilateral mild hearing loss at birth. The proband's father, sister, paternal aunt, and cousins had mild sensorineural hearing loss. Further evaluation revealed keratoderma on the feet of the proband, father, sister, paternal aunt, and cousins. We identified a heterozygous c.250G>A (p.Val84Met) variant in GJB2 as the cause of the autosomal dominant syndromic hearing loss with the skin disorder in this Japanese family and delineated the pathological significance of the variant. The Val84Met variant in GJB2 contributes to the autosomal dominant form of syndromic hearing loss with keratoderma.

Indexed as

autosomal dominant inheritanceconnexin 26gjb2keratodermamissense variantsyndromic hearing loss

Identifiers

PMID38550477
PMCPMC10973607
OpenAlexW4392195260

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.