Studying the genetic causes of hearing loss of children

Abstract

The study of the genetic aspects of hearing loss is an important area in medical genetics and pediatrics. Congenital sensorineural hearing loss can manifest itself in various forms and degrees of severity and in some cases is associated with various genetic syndromes. Studying the genetic nature of hearing loss makes it possible to better understand it and develop effective diagnostic and therapeutic approaches. The purpose of the study: to study the genetic causes of SHL (sensorineural hearing loss of children). Material and methods. The examination, analysis of medical histories and results of molecular genetic research (clinical exome sequencing, complete exome sequencing, complete genome sequencing) of patients aged 1-18 years (n=24) with SHL were carried out. According to the results of the work, it was found that 79% of cases of NST are caused by genetic reasons. The most common (n=3) pathogenic variants in the ARID gene associated with Coffin-Siris syndrome of various types, for which NST is a characteristic feature, were found. NST is a typical sign of diseases such as Kabuki syndrome, Pendred syndrome, KBG syndrome, mucopolysaccharidosis of Type 1, primary ciliary dyskinesia which were diagnosed in the examined patients. Also, pathogenic variants of various genes were quite common (n=6), leading to impaired development of the nervous system and encephalopathy. In two cases, mutations in the genes SLC26A4 and GJB2, responsible for the development of nonsyndromic NST, were identified. Conclusion. Sensorineural hearing loss is an indication for a molecular genetic examination. Knowing the cause of NST allows you to make personalized decisions on the treatment and correction of this disease in children.