Evidence map›Paper›PMID 34228168›Full record

ArticleEuropean archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery2022

A novel MYH9 mutation related to non-syndromic delayed post-lingual sensorineural hearing loss.

Chen Pan, Yunmei Zhang, Siqi Yang, Chun Chen, Jinxin Wang, Chen Shi, Yafeng Yu

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In one paragraph

Article in European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, 2022. 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
0.1field-weighted citation impact, top 62% 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, 3 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

7 authors at 1 institution in 1 country.

Chen Pan *Department of Otolaryngology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Yunmei Zhang *Department of Otolaryngology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Siqi Yang *Department of Otolaryngology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Chun ChenDepartment of Otolaryngology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Jinxin WangDepartment of Otolaryngology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Chen ShiDepartment of Otolaryngology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Yafeng YuDepartment of Otolaryngology, The First Affiliated Hospital of Soochow University, Suzhou, China. yfyu1024@163.com.ORCID http://orcid.org/0000-0003-3558-0263
Soochow University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveHearing loss (HL) is the most common sensory organ dysfunction disease. The cause is often complex, though genetics are the main factor.

methodsIn this study, we investigated a Chinese family with non-syndromic delayed post-lingual deafness. Comprehensive data collection was performed on this family's members, including basic information, audiological examinations, blood system examinations and imaging examinations. A pedigree diagram was drawn and the genetic patterns were analyzed.

resultsA new gene mutation, c.314A>T:p.Y105F in the MYH9 exon, was confirmed by next generation sequencing and Sanger sequencing. This mutation co-segregated with the phenotype in the pedigree. Patients in this family present bilateral symmetry and gradual and delayed high-frequency sensorineural hearing loss. The age of onset was approximately 30 years old. Except for hearing loss, no lesions were seen in other organs, especially the blood system.

conclusionThe identification and detection of a novel MYH9 mutation may be of great significance to provide the basis for gene function research and genetic consultation.

Indexed as

Hearing Loss, SensorineuralHearing Loss, High-FrequencyHumansMutationMyosin Heavy ChainsPedigreePhenotypeMYH9 protein, humanMyosin Heavy ChainsMutationMYH9Non-syndromicPost-lingualSensorineural hearing loss

Identifiers

PMID34228168
OpenAlexW3178798179

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.