20.500.12556/RUL-133792 The importance of early genetic diagnostics of hearing loss in children Hearing loss is one of the most common sensory deficits. It carries severe medical and social consequences, and therefore, universal newborn hearing screening was introduced at the beginning of this century. Affected patients can have hearing loss as a solitary deficit (non-syndromic hearing loss) or have other organs affected as well (syndromic hearing loss). In around 60% of cases, congenital hearing loss has a genetic etiology, where disease-causing variants can change any component of the hearing pathway. Genetic testing is usually performed by sequencing. Sanger sequencing enables analysis of the limited number of genes strictly preselected according to the clinical presentation and the prevalence among the hearing loss patients. In contrast, next-generation sequencing allows broad analysis of the numerous genes related to hearing loss, exome, or the whole genome. Identification of the genetic etiology is possible, and it makes the foundation for the genetic counselling in the family. Furthermore, it enables the identification of the comorbidities that may need a referral for specialty care, allows early treatment, helps with identification of candidates for cochlear implant, appropriate aversive/protective management, and is the foundation for the development of novel therapeutic options. hearing loss children genetic diagnostics genetic testing etiology benefits health family izguba sluha otroci genska diagnostika true false true Angleški jezik Slovenski jezik Članek v reviji 2021-12-15 11:48:20 2021-12-15 11:48:23 2023-05-04 13:41:12 0000-00-00 00:00:00 2020 0 0 13 str. iss. 9, art. 471 Vol. 56 2020 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.21 1648-9144 10.3390/medicina56090471 28673795 RAZ_Bozanic_Urbancic_Nina_2020.pdf RAZ_Bozanic_Urbancic_Nina_2020.pdf 1 9DA90AC797BE2C6968546EF683CA227B dbcb4cad561184622f41a7fcbbfcc10c9f32282492e6e93bf3aa56e319df0917 bb516db8-5d94-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=152131 https://www.mdpi.com/1648-9144/56/9/471 0 97a8fc38-5d94-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=152130 Medicinska fakulteta 0 0 0