Biallelic p.V37I variant in GJB2 is associated with increasing incidence of hearing loss with age

• DOI: 10.1016/j.gim.2021.12.007
• Publication Date: 2022-01-10T07:53:38Z
• Authors: Ying Chen; Zhili Wang; Yi Jiang; Yun Lin; Xueling Wang; Zhentao Wang; Zheng Tang; Yi Wang; Jimei Wang; Yunge Gao; Wentao Shi; Zhiwu Huang; Yun Li; Junbo Shi; Xue Wang; Qiongfei Yu; Yunqian Ma; Jin Zhou; Tao Yang; Hao Wu
• Keywords: Pure tone audiometry; Auditory brainstem response

This study aimed to quantitatively assess the incidence of hearing loss in relation age individuals with biallelic p.V37I variant GJB2.Population screening was performed 30,122 aged between 0 and 97 years Shanghai. Hearing thresholds controls were determined by click auditory brainstem response or pure tone audiometry.Biallelic detected 0.528% (159/30,122) subjects. Of newborns, 43.91% (18/41) passed their distortion-product otoacoustic emissions-based newborn had lower than 20 decible above normal level. The older newborns elevated thresholds, increasing 9.52%, 23.08%, 59.38%, 80.00% for moderate higher grade groups 7 15 years, 40 60 85 respectively. Their deteriorated at a rate 0.40 dB level per year on average; males more susceptible, deterioration occurred preferentially sound frequencies.The is associated steadily progressive over course life. Most may develop significant adulthood and, can benefit from early diagnosis intervention through wide-spread genetic screening.