Evidence map›Paper›PMID 32447495›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 Surgery2020

Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.

Yalan Liu, Jie Wen, Shushan Sang, Lingyun Mei, Chufeng He, Lu Jiang, Sida Huang, Yong Feng

Abstract read
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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, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
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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 1 institution in 1 country.

Yalan LiuDepartment of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.ORCID http://orcid.org/0000-0001-9350-3130
Jie WenDepartment of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
Shushan SangDepartment of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
Lingyun MeiDepartment of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
Chufeng HeDepartment of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
Lu JiangDepartment of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
Sida HuangDepartment of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
Yong FengDepartment of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China. fengyong_hn@hotmail.com.
Central South University · CN

Funding

National Natural Science Foundation of China 81771023Natural Science Foundation of Hunan Province 2018JJ2634Postdoctoral Research Foundation of China 2017M620359
6 · The paper itself

Abstract

objectivesThe identification of gene mutations enables more appropriate genetic counseling and proper medical management for EVA patients. The purpose of this study was to validate the accuracy and sensitivity of our method for comprehensive mutation detection in EVA, and summarize these data to explore a more accurate and convenient genetic diagnosis method.

methodsA multiplex PCR sequencing panel was designed to capture the exons of three known EVA-associated genes (SLC26A4, KCNJ10, and FOXI1), and NGS was conducted in 17 Chinese families with EVA.

resultsA total of 16 SLC26A4 variants were found in 21 probands with bilateral EVA, including three novel variants (c.416G>A, c.823G>A and c.1027G>C), which were not reported in the dbSNP, gnomAD database, and ClinVar databases. One patient carried a FOXI1 variant (heterozygous, c.214C>A) and one patient carried a KCNJ10 variant (heterozygous, c.1054C>A), both of which were novel variants. Biallelic potential pathogenic variants were detected in 21/21patient samples, leading to a purported diagnostic rate of 100%. All results were verified by Sanger sequencing.

conclusionThis result supplemented the mutation spectrum of EVA, and supports that combined multiple PCR-targeted enrichment, and NGS is a valuable molecular diagnostic tool for EVA, and is suitable for clinical application.

Indexed as

AdolescentAsian PeopleChildChild, PreschoolDNA Mutational AnalysisExonsFemaleForkhead Transcription FactorsHearing LossHearing Loss, SensorineuralHeterozygoteHigh-Throughput Nucleotide SequencingHumansKcnj10 ChannelMaleMembrane Transport ProteinsForkhead Transcription FactorsFOXI1 protein, humanKcnj10 ChannelMembrane Transport ProteinsPotassium Channels, Inwardly RectifyingSLC26A4 protein, humanSulfate TransportersEVAGenetic mutationsHearing lossNext-generation sequencing

Identifiers

PMID32447495
OpenAlexW3026609604

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.