Journal of Otorhinolaryngology and Facial Plastic Surgery
Doi
Abstract
Background: Hearing loss, especially at a young age, has severe personal and social consequences for a person and brings enormous costs to the treatment system. Considering the vital role of genetics in hearing loss, genetics research creates a suitable platform for progress in the treatment of these patients, so we decided to conduct a study with the aim of early diagnosis and even before symptoms appear in order to reduce possible complications.
Aim: In this study early diagnosis of hearing loss and even before symptoms appear in order to reduce possible complications.
Methods: Based on the history and phenotype and examination of the medical records of 1249 patients who are candidates for cochlear implantation, genetic testing among the patients suspected of non-syndromic genetic hearing loss, a request for genetic testing of stage one or two or both was made and according to the willingness of the families and their cooperation A total of 138 genetic tests were performed and subjected to genetic analysis.
Results: Among 138 tested cases, 71 women and 67 men, NSHL inheritance autosomal recessive pattern was 84/78% and autosomal dominant, 5/07 which is very close to previous studies. There were genetic mutations in the Gjb2 gene in ten cases of patients. Ninety-one patients were negative for GJB2 involvement and were candidates for WES, but unfortunately, many families refused to perform the test due to the cost of this test. Seven patients underwent WES, and several genetic mutations were identified in the thesis. WES was performed for 34 patients according to the investigations carried out directly.
Conclusion: Iranian society has played an essential role in improving our understanding of the genes involved in proper hearing functioning and how these genes' variants cause hearing loss. Researchers have worked tirelessly to solve the genetic mystery of hearing loss in Iran, which has been very successful. However, more work is still needed
