Boxiang Zhuang, Haiqiao Du, Chenyu Chen, Menghua Li, Shuoshuo Kang, Qian Wang, Shuwei Wang, Weiwei Guo, Chang Lin, Jianan Li, Shiming Yang, Rong Wang
{"title":"彭德综合征/非综合征性前庭导水管扩大的 SLC26A4 突变的临床表型特征。","authors":"Boxiang Zhuang, Haiqiao Du, Chenyu Chen, Menghua Li, Shuoshuo Kang, Qian Wang, Shuwei Wang, Weiwei Guo, Chang Lin, Jianan Li, Shiming Yang, Rong Wang","doi":"10.1002/lary.31752","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutations and clinical phenotypic characteristics of patients with Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PS/NSEVA).</p><p><strong>Design: </strong>A retrospective cohort study for the Chinese population was performed to analyze the hearing test results of 406 patients with PS/NSEVA who had a SLC26A4 mutation and the relationship between inner ear imaging and audiology.</p><p><strong>Results: </strong>There was a significant difference in the mean hearing threshold in patients with biallelic mutations (M2), monoallelic mutations (M1), and nonallelic mutations (M0) and between patients with isolated vestibular aqueduct enlargement (IEVA) and patients with IEVA combined with Mondini malformation. There was no significant difference between patients with different gene mutation types or different sexes, or between the width of the vestibular aqueduct (VA) and the mean hearing threshold. The degree of hearing loss was linearly correlated with age.</p><p><strong>Conclusions: </strong>We propose that the presence and absence of SLC26A4 mutation, whether combined with Mondini malformation and patient age, are essential factors affecting the degree of hearing loss in the Chinese population. However, the number and type of mutations, degree of VA expansion, and sex of the patients did not affect the clinical audiological phenotype.</p><p><strong>Level of evidence: </strong>3 Laryngoscope, 2024.</p>","PeriodicalId":49921,"journal":{"name":"Laryngoscope","volume":" ","pages":""},"PeriodicalIF":2.2000,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct.\",\"authors\":\"Boxiang Zhuang, Haiqiao Du, Chenyu Chen, Menghua Li, Shuoshuo Kang, Qian Wang, Shuwei Wang, Weiwei Guo, Chang Lin, Jianan Li, Shiming Yang, Rong Wang\",\"doi\":\"10.1002/lary.31752\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutations and clinical phenotypic characteristics of patients with Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PS/NSEVA).</p><p><strong>Design: </strong>A retrospective cohort study for the Chinese population was performed to analyze the hearing test results of 406 patients with PS/NSEVA who had a SLC26A4 mutation and the relationship between inner ear imaging and audiology.</p><p><strong>Results: </strong>There was a significant difference in the mean hearing threshold in patients with biallelic mutations (M2), monoallelic mutations (M1), and nonallelic mutations (M0) and between patients with isolated vestibular aqueduct enlargement (IEVA) and patients with IEVA combined with Mondini malformation. There was no significant difference between patients with different gene mutation types or different sexes, or between the width of the vestibular aqueduct (VA) and the mean hearing threshold. The degree of hearing loss was linearly correlated with age.</p><p><strong>Conclusions: </strong>We propose that the presence and absence of SLC26A4 mutation, whether combined with Mondini malformation and patient age, are essential factors affecting the degree of hearing loss in the Chinese population. However, the number and type of mutations, degree of VA expansion, and sex of the patients did not affect the clinical audiological phenotype.</p><p><strong>Level of evidence: </strong>3 Laryngoscope, 2024.</p>\",\"PeriodicalId\":49921,\"journal\":{\"name\":\"Laryngoscope\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.2000,\"publicationDate\":\"2024-11-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Laryngoscope\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/lary.31752\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Laryngoscope","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/lary.31752","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct.
Objective: To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutations and clinical phenotypic characteristics of patients with Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PS/NSEVA).
Design: A retrospective cohort study for the Chinese population was performed to analyze the hearing test results of 406 patients with PS/NSEVA who had a SLC26A4 mutation and the relationship between inner ear imaging and audiology.
Results: There was a significant difference in the mean hearing threshold in patients with biallelic mutations (M2), monoallelic mutations (M1), and nonallelic mutations (M0) and between patients with isolated vestibular aqueduct enlargement (IEVA) and patients with IEVA combined with Mondini malformation. There was no significant difference between patients with different gene mutation types or different sexes, or between the width of the vestibular aqueduct (VA) and the mean hearing threshold. The degree of hearing loss was linearly correlated with age.
Conclusions: We propose that the presence and absence of SLC26A4 mutation, whether combined with Mondini malformation and patient age, are essential factors affecting the degree of hearing loss in the Chinese population. However, the number and type of mutations, degree of VA expansion, and sex of the patients did not affect the clinical audiological phenotype.
期刊介绍：
The Laryngoscope has been the leading source of information on advances in the diagnosis and treatment of head and neck disorders since 1890. The Laryngoscope is the first choice among otolaryngologists for publication of their important findings and techniques. Each monthly issue of The Laryngoscope features peer-reviewed medical, clinical, and research contributions in general otolaryngology, allergy/rhinology, otology/neurotology, laryngology/bronchoesophagology, head and neck surgery, sleep medicine, pediatric otolaryngology, facial plastics and reconstructive surgery, oncology, and communicative disorders. Contributions include papers and posters presented at the Annual and Section Meetings of the Triological Society, as well as independent papers, "How I Do It", "Triological Best Practice" articles, and contemporary reviews. Theses authored by the Triological Society’s new Fellows as well as papers presented at meetings of the American Laryngological Association are published in The Laryngoscope.
• Broncho-esophagology
• Communicative disorders
• Head and neck surgery
• Plastic and reconstructive facial surgery
• Oncology
• Speech and hearing defects
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