Avtor/Urednik		Božanić Urbančič, Nina; Battelino, Saba; Tesovnik, Tine; Trebušak Podkrajšek, Katarina
Naslov		The importance of early genetic diagnostics of hearing loss in children
Tip		članek
Vol. in št.		Letnik 56, št. 9
Leto izdaje		2020
Obseg		str. 1-13
ISSN		1648-9144 - Medicina (Kaunas, Lithuania)
Jezik		eng
Abstrakt		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.
Proste vsebinske oznake		hearing loss children genetic diagnostics izguba sluha otroci genska diagnostika