• Yilun Tao, Zhipeng Hu, Dong Han, Wenxia Song, Lihong Wang, Haiwei Wang, and Xiaoze Li.
• Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital Changzhi, Shanxi, China.
• Medicine (Baltimore). 2024 Aug 16; 103 (33): e39266e39266.

RationaleCongenital sensorineural hearing loss is a significant global health issue, primarily driven by genetic factors, such as mutations in the GJB2 gene. This report presents a Chinese girl with congenital deafness and a novel mutation of the GJB2 gene.Patient ConcernsA newborn Chinese girl exhibited signs of congenital deafness.DiagnosisCongenital deafness was confirmed through comprehensive newborn hearing screenings that included otologic, audiologic, and physical examinations. Genetic analysis revealed a compound heterozygous mutation involving c.188delT and c.235delC in the GJB2 gene, indicating a genetic basis for her hearing loss.InterventionsThe patient underwent cochlear implantation, which resulted in stable auditory outcomes.OutcomesDespite follow-up difficulties, stable auditory outcomes were achieved post-cochlear implantation, highlighting the potential efficacy of this intervention in GJB2-related hearing loss.LessonsThis case study enriches our understanding of GJB2 mutations and underscores the critical role of genetic testing in diagnosing congenital sensorineural hearing loss. It emphasizes the necessity for early intervention and sustained interdisciplinary care to enhance the quality of life for patients with genetic hearing impairment.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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