An analysis of the correlation between different audiological phenotypes and common genes causing deafness in non-syndromic deafness
ZHANG Chuqin1, CHEN Bobei1, YI Song2, LIU Xuejun1, XIANG Haijie1
1.Department of Otorhinolaryngology, the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical University, Wenzhou 325027, China; 2.School and Hospital of Stomatology, Wenzhou Medical University, Wenzhou 325027, China
ZHANG Chuqin,CHEN Bobei,YI Song, et al. An analysis of the correlation between different audiological phenotypes and common genes causing deafness in non-syndromic deafness[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2020, 50(11): 873-877.
Abstract：Objective: To investigate the correlation between GJB2, GJB6 gene and mitochondrial DNA A1555G, C1494T mutation and clinical audiology and age of onset in non-syndromic deafness. Methods: GJB2,GJB6 and mitochondrial DNA A1555G, C1494T mutations were tested in 269 patients with non-syndrome deafness and the results analyzed. Results: The study showed that 16.73% and 0.37% of all patients were found to have GJB2 and GJB6 mutations, while 23.79% and 0.37% were found to have mtDNA A1555G and C1494T mutations. The rates of hearing loss in patients with a mild, moderate, severe to profound were 9.67%, 27.88%,23.42% and 39.03% respectively. The mutation rates of GJB2 and GJB6 among each group were 7.69%, 8.00%,25.40% and 20.95% respectively, while the mutation frequencies of mtDNA A1555G, C1494T among each group were 38.46%, 34.67%%, 30.16% and 9.52% respectively. Among pre-lingual group (0-3 years old), preschool group (3-6 years old); School age group (6-18 years old) and the adult group, the rates of GJB6 and GJB2 gene mutations were 26.57%, 13.51%, 5.56%, 1.89%, respectively; the rates of mtDNA A1555G and C1494T mutations were 14.69%, 24.32%, 41.67%, 37.74%, respectively. There was significant difference among groups with different degrees of hearing loss (χ2=21.199, 18.357, P<0.001). Conclusion: The pathogenic mutations of GJB2 and GJB6 were detected mainly in severe and extremely severe deafness, while the mtDNA gene mutations were detected in all levels of deafness, and the more serious the hearing loss, the lower the detection rate. GJB2 and GJB6 mutations tend to cause pre-lingual onset deafness, while mtDNA A1555G and C1494T mutations seem to affect patients of old age.
