{"title":"[常见隐性耳聋基因 GJB2 和 SLC26A4 患者的听觉特征和疾病进展趋势]。","authors":"M M Dou, J Guan, R Zhou, J Li, L Lan, Q J Wang","doi":"10.3760/cma.j.cn112137-20240329-00720","DOIUrl":null,"url":null,"abstract":"<p><p>Patients who aged≥6 years and had hearing loss due to GJB2 or SLC26A4 mutation from the Chinese Deafness Genome Project between January 2020 and December 2023 were included. A total of 43 patients with GJB2 mutation were detected, including 25 males and 18 females, with a mean age of (20.4±11.4) years. There were 20 patients with SLC26A4 mutation, including 9 males and 11 females, with a mean age of (15.7±9.1) years. The mean hearing threshold of GJB2 and SLC26A4 mutation patients was 54.1 (95%<i>CI</i>: 49.1-59.1) decibel hearing level (dB HL) and 66.1 (95%<i>CI</i>: 58.6-73.6) dB HL, respectively. The hearing threshold of GJB2 and SLC26A4 mutation patients increased at a rate of 0.21 (95%<i>CI</i>:-0.15-0.57) dB HL/year and 2.22 (95%<i>CI</i>: 1.46-2.99) dB HL/year, respectively. The current study indicates that patients with SLC26A4 mutation show a progressive trend of hearing decline with the increase of age.</p>","PeriodicalId":24023,"journal":{"name":"Zhonghua yi xue za zhi","volume":"104 38","pages":"3600-3603"},"PeriodicalIF":0.0000,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4].\",\"authors\":\"M M Dou, J Guan, R Zhou, J Li, L Lan, Q J Wang\",\"doi\":\"10.3760/cma.j.cn112137-20240329-00720\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Patients who aged≥6 years and had hearing loss due to GJB2 or SLC26A4 mutation from the Chinese Deafness Genome Project between January 2020 and December 2023 were included. A total of 43 patients with GJB2 mutation were detected, including 25 males and 18 females, with a mean age of (20.4±11.4) years. There were 20 patients with SLC26A4 mutation, including 9 males and 11 females, with a mean age of (15.7±9.1) years. The mean hearing threshold of GJB2 and SLC26A4 mutation patients was 54.1 (95%<i>CI</i>: 49.1-59.1) decibel hearing level (dB HL) and 66.1 (95%<i>CI</i>: 58.6-73.6) dB HL, respectively. The hearing threshold of GJB2 and SLC26A4 mutation patients increased at a rate of 0.21 (95%<i>CI</i>:-0.15-0.57) dB HL/year and 2.22 (95%<i>CI</i>: 1.46-2.99) dB HL/year, respectively. The current study indicates that patients with SLC26A4 mutation show a progressive trend of hearing decline with the increase of age.</p>\",\"PeriodicalId\":24023,\"journal\":{\"name\":\"Zhonghua yi xue za zhi\",\"volume\":\"104 38\",\"pages\":\"3600-3603\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-10-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Zhonghua yi xue za zhi\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3760/cma.j.cn112137-20240329-00720\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhonghua yi xue za zhi","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112137-20240329-00720","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
摘要
纳入2020年1月至2023年12月期间中国耳聋基因组计划中年龄≥6岁、因GJB2或SLC26A4突变导致听力损失的患者。共发现43例GJB2突变患者，其中男性25例，女性18例，平均年龄（20.4±11.4）岁。SLC26A4突变患者20例，其中男性9例，女性11例，平均年龄（15.7±9.1）岁。GJB2和SLC26A4突变患者的平均听阈分别为54.1（95%CI：49.1-59.1）分贝听力水平（dB HL）和66.1（95%CI：58.6-73.6）dB HL。GJB2和SLC26A4突变患者的听阈分别以0.21 (95%CI:-0.15-0.57) dB HL/年和2.22 (95%CI: 1.46-2.99) dB HL/年的速度上升。本研究表明，随着年龄的增长，SLC26A4 基因突变患者的听力呈进行性下降趋势。
[Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4].
Patients who aged≥6 years and had hearing loss due to GJB2 or SLC26A4 mutation from the Chinese Deafness Genome Project between January 2020 and December 2023 were included. A total of 43 patients with GJB2 mutation were detected, including 25 males and 18 females, with a mean age of (20.4±11.4) years. There were 20 patients with SLC26A4 mutation, including 9 males and 11 females, with a mean age of (15.7±9.1) years. The mean hearing threshold of GJB2 and SLC26A4 mutation patients was 54.1 (95%CI: 49.1-59.1) decibel hearing level (dB HL) and 66.1 (95%CI: 58.6-73.6) dB HL, respectively. The hearing threshold of GJB2 and SLC26A4 mutation patients increased at a rate of 0.21 (95%CI:-0.15-0.57) dB HL/year and 2.22 (95%CI: 1.46-2.99) dB HL/year, respectively. The current study indicates that patients with SLC26A4 mutation show a progressive trend of hearing decline with the increase of age.
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