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The Importance of Early Genetic Diagnostics of Hearing Loss in Children

Department of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre Ljubljana, Zaloska 2, 1000 Ljubljana, Slovenia
Department of Otorhinolaryngology, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia
University Children’s Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia
Faculty of Medicine, Institute of Biochemistry, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia
Author to whom correspondence should be addressed.
Medicina 2020, 56(9), 471;
Received: 15 June 2020 / Revised: 30 August 2020 / Accepted: 10 September 2020 / Published: 14 September 2020
(This article belongs to the Section Genetics)
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. View Full-Text
Keywords: genetic testing; etiology; benefits; health; family genetic testing; etiology; benefits; health; family
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Božanić Urbančič, N.; Battelino, S.; Tesovnik, T.; Trebušak Podkrajšek, K. The Importance of Early Genetic Diagnostics of Hearing Loss in Children. Medicina 2020, 56, 471.

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