Evidence map›Paper›PMID 40195191›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 Surgery2025

Using T7 endonuclease I to detect SLC26A4 mutations in children with large vestibular aqueduct syndrome, with or without Mondini malformation and assess cochlear implant outcomes.

Yan Ding, Yong Zhang, Cheng Wen, Hua-Ping Xie, Bing-Lin Xie, Lihua Li, Weijing Wu, Ding-Hua Xie, Ruosha Lai

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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, 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

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Diagnostic value of the inner ear computed tomography measurements in detecting congenital sensorineural hearing loss: a comparative study.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 · 2026
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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Yan DingDepartment of Otorhinolaryngology-Head & Neck Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.
Yong ZhangDepartment of Otorhinolaryngology-Head & Neck Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.
Cheng WenDepartment of Otorhinolaryngology-Head & Neck Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.
Hua-Ping XieLaboratory of Animal Nutrition and Human Health, Hunan International Joint Laboratory of Animal Intestinal Ecology and Health, College of Life Science, Hunan Normal University, Changsha, Hunan, China.
Bing-Lin XieLaboratory of Animal Nutrition and Human Health, Hunan International Joint Laboratory of Animal Intestinal Ecology and Health, College of Life Science, Hunan Normal University, Changsha, Hunan, China.
Lihua LiDepartment of Otolaryngology Head and Neck Surgery, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.
Weijing WuDepartment of Otorhinolaryngology-Head & Neck Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.
Ding-Hua XieDepartment of Otorhinolaryngology-Head & Neck Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.
Ruosha LaiDepartment of Otorhinolaryngology-Head & Neck Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China. lairuosha@csu.edu.cn.ORCID http://orcid.org/0000-0002-7719-4312

Funding

Natural Science Foundation of Changsha kq2208326Natural Science Foundation of Hunan Province 2023JJ30753
6 · The paper itself

Abstract

objectiveTo analyze SLC26A4 gene mutations in children with large vestibular aqueduct syndrome (LVAS) with or without Mondini malformation, and to compare their hearing phenotypes, rehabilitation outcomes, and learning performance after cochlear implantation.

methodsWe used T7 Endonuclease I enzyme digestion to detect SLC26A4 mutations in 48 children with LVAS without Mondini malformation (EVA group), 29 children with LVAS and Mondini malformation (EVA + MD group). Negative results were confirmed by Sanger sequencing. Auditory performance (CAP) and speech intelligibility (SIR) scores assessed hearing and speech rehabilitation outcomes, while academic performance evaluated learning post-cochlear implantation.

resultsElectrophoresis showed that the positive detection rates of SLC26A4 mutations were 89.58% in the EVA group, 89.66% in the EVA + MD group, and 0% in the control group. In the EVA group, the most common mutations were in exons 7 + 8 (52.08%), 11 + 12 (22.92%), and 19 (18.75%). In the EVA + MD group, the predominant mutations were in exons 11 + 12 (51.72%), 4 (34.48%), 7 + 8 (27.59%), and 19 (24.14%). The EVA + MD group had higher detection rates for two-site (37.93%) and three-site compound heterozygous mutations (13.79%) compared to the EVA group (22.92% and 10.42%, respectively). The median diagnosis time for profound hearing loss was 6.62 months in the EVA + MD group versus 10.56 months in the EVA group. There were no significant differences in CAP and SIR scores between the groups, but the EVA group showed better learning performance.

conclusionThis study reports, for the first time, multiple cases exhibiting a three-site compound heterozygous mutation in the SLC26A4 gene. The hotspot exons of the SLC26A4 gene differ between children with simple LVAS and those with LVAS accompanied by Mondini malformation. Children with both conditions show earlier onset of profound hearing loss and poorer learning performance compared to those with only LVAS.

Indexed as

Cochlear ImplantationHearing Loss, SensorineuralMembrane Transport ProteinsVestibular AqueductChildChild, PreschoolCochlear ImplantsFemaleHumansInfantMaleMutationSulfate TransportersMembrane Transport ProteinsSLC26A4 protein, humanSulfate TransportersCochlear implant outcomesCompound heterozygous mutationLarge vestibular aqueduct syndromeMondini malformationSLC26A4T7 endonuclease I

Identifiers

PMID40195191

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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.