ISSN : 2146-3123
E-ISSN : 2146-3131

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies
Emre Ocak1, Duygu Duman2,3, Mustafa Tekin4,5,6
1Department of Otolaryngology, Ankara University School of Medicine, Ankara, Turkey
2Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
3Department of Audiology, Ankara University Faculty of Health Sciences, Ankara, Turkey
4John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA
5Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, USA
6Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, USA
DOI : 10.4274/balkanmedj.galenos.2019.2019.4.66
Pages : 206-211

Abstract

Inner ear anomalies diagnosed using a radiological study are detected in almost 30% of cases with congenital or prelingual-onset sensorineural hearing loss. Inner ear anomalies can be isolated or occur along with a part of a syndrome involving other systems. Although astonishing progress has been made in research aimed at revealing the genetic causes of hearing loss in the past few decades, only a few genes have been linked to inner ear anomalies. The aim of this review is to discuss the known genetic causes of inner ear anomalies. Identifying the genetic causes of inner ear anomalies is important for guiding clinical care that includes empowered reproductive decisions provided to the affected individuals. Furthermore, understanding the molecular underpinnings of the development of the inner ear in humans is important to develop novel treatment strategies for people with hearing loss.

Keywords : Anomaly, genetics, inner ear, syndrome
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