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

Zhonghua Yi Xue Za Zhi

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.

Published: October 2024

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%: 49.1-59.1) decibel hearing level (dB HL) and 66.1 (95%: 58.6-73.6) dB HL, respectively. The hearing threshold of GJB2 and SLC26A4 mutation patients increased at a rate of 0.21 (95%:-0.15-0.57) dB HL/year and 2.22 (95%: 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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http://dx.doi.org/10.3760/cma.j.cn112137-20240329-00720DOI Listing

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