Clinical Characteristics of Two Families with Autosomal Dominant GJB2 Mutations with Literature Review

LI Xin; ZHANG Ping; ZHANG Xiaojuan; DIAO Xiuli

doi:10.3969/j.issn.1672-2922.2025.05.008

Abstract：Objective To summarize audiological phenotypes of two families with autosomal dominant hereditary deafness caused by GJB2 mutations together with literature review Methods Two families with hereditary deafness visiting the Department of Otolaryngology in our hospital were enrolled.Audiological examinations and imaging studies were completed.Peripheral blood was collected to extract genomic DNA,and complete sequence of the GJB2 gene was performed.Auditory phenotypic characteristics of the patients were summarized,and relevant literatures were reviewed.Results The two families(SD-2024-01 and SD-2024-02)both showed autosomal dominant mutations of the GJB2 gene,i.e.c.138T>G(p.Asp46Glu)in the SD-2024-01 family with three patients presenting with moderate-to-profound sensorineural hearing loss in two generations,and c.250G>A(p.Val84Met)in the SD-2024-02 family with the proband and his father showing moderate-to-profound sensorineural hearing loss.The five patients showed no obvious abnormalities in skin or temporal bone CT scans.Literature review found three articles describing audiological phenotypes in patients with mutations at the two GJB2 sites in three families,with mild to profound sensorineural hearing loss,slightly different from our patients.Conclusion We provide the first report on autosomal dominant GJB2 c.138T>G mutation in the Chinese population and on hearing characteristics of a family with autosomal dominant GJB2 c.250G>A mutation which are different from those reported abroad.