The importance of early genetic diagnostics of hearing loss in children

Božanić Urbančič, Nina (avtor), Battelino, Saba (avtor), Tesovnik, Tine (avtor), Trebušak Podkrajšek, Katarina (avtor)

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.

• Jezik: Angleški jezik
• Ključne besede: hearing loss, children, genetic diagnostics, genetic testing, etiology, benefits, health, family
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.02 - Pregledni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2020
• Št. strani: 13 str.
• Številčenje: Vol. 56, iss. 9, art. 471
• PID: 20.500.12556/RUL-133792
• UDK: 616.21
• ISSN pri članku: 1648-9144
• DOI: 10.3390/medicina56090471
• COBISS.SI-ID: 28673795
• Datum objave v RUL: 15.12.2021

Gradivo je del revije

• Naslov: Medicina
• Založnik: MDPI
• ISSN: 1648-9144
• COBISS.SI-ID: 6754623

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
• Začetek licenciranja: 14.09.2020

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: izguba sluha, otroci, genska diagnostika

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P3-0343
• Naslov: Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P1-0170
• Naslov: Molekulski mehanizmi uravnavanja celičnih procesov v povezavi z nekaterimi boleznimi pri človeku