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.
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。.