常见隐性致聋基因GJB2和SLC26A4相关耳聋患者的听力学特征及其病程演变趋势  

Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4

作　　者：豆慢慢 关静[2] 周睿 李进[2] 兰兰[2] 王秋菊 Dou Manman;Guan Jing;Zhou Rui;Li Jin;Lan Lan;Wang Qiuju(School of Medical Technology and Information Engineering,Zhejiang Chinese Medicine University,Hangzhou 310053,China;Department of Audio-Vestibular Medicine,Senior Department of Otolaryngology-Head and Neck Surgery,the Sixth Medical Center of Chinese PLA General Hospital,State Key Laboratory of Hearing and Balance Science,National Clinical Research Center for Otolaryngologic Diseases,Beijing 100048,China)

机构地区：[1]浙江中医药大学医学技术与信息工程学院,杭州310053 [2]解放军总医院第六医学中心耳鼻咽喉头颈外科医学部耳鼻咽喉内科,听觉与平衡觉全国重点实验室,国家耳鼻咽喉疾病临床医学研究中心,北京100048

出　　处：《中华医学杂志》2024年第38期3600-3603,共4页National Medical Journal of China

基　　金：国家自然科学基金面上项目(82271171,82271189);国家自然科学基金优秀青年基金(82222016)。

摘　　要：前瞻性纳入2020年1月至2023年12月中国聋病基因组计划中年龄≥6岁的GJB2基因突变致聋患者43例,男25例,女18例,年龄(20.4±11.4)岁;SLC26A4基因突变致聋患者20例,男9例,女11例,年龄(15.7±9.1)岁。GJB2和SLC26A4基因突变致聋患者的平均听力阈值分别为54.1分贝听力级(dB HL)(95%CI:49.1~59.1 dB HL)、66.1 dB HL(95%CI:58.6~73.6 dB HL)。GJB2基因突变致聋患者的听力水平下降速率为0.21 dB HL/年(95%CI:-0.15~0.57 dB HL/年);SLC26A4基因突变致聋患者的听力水平下降速率为2.22 dB HL/年(95%CI:1.46~2.99 dB HL/年)。SLC26A4基因突变致聋患者的听力水平随年龄增长呈现出逐渐下降的趋势。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.

关 键 词：耳聋 隐性基因 遗传疾病 表型进展 听力损失 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]