Otosclerosis is a common form of conductive hearing loss with a prevalence of 0.3-0.4% in white adults. It is characterized by labyrinthine endochondral sclerosis which may invade the stapedio-vestibular joint and interfere with free motion of the stapes. Both environmental factors and genetic causes have been implicated in the disease process; however, the pathogenesis of otosclerosis still remains poorly understood. To date, several loci have been mapped in families segregating autosomal dominant otosclerosis although no disease-causing mutations have been identified. In contrast, several association studies have implicated specific genes but their effects on risk-of-disease are small. The goal of this paper is to review the genetics of otosclerosis and to provide insight into studies that could be performed to elucidate disease pathogenesis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.heares.2009.07.002 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cochlear implantation in a familial rare syndromic ossification-related deafness and literature review.
Acta Otolaryngol
October 2024
Department of Otorhinolaryngology and Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, P. R. China.
Background: Kenny-Caffey Syndrome type 2 (KCS2) is a genetic disease affecting bone metabolism. However, cochlear implantation (CI) results have yet to be published in detail.
Objective: This study presents the gene, clinical characteristics, surgical outcomes, and literature review of 2 patients with sensorineural hearing loss related to KCS2.
A systematic review on the contribution of DNA methylation to hearing loss.
Clin Epigenetics
July 2024
Meniere's Disease Neuroscience Research Program, Faculty of Medicine and Health, School of Medical Sciences, The Kolling Institute, University of Sydney, Rm 611024, Level 11 Kolling Institute | 10 Westbourne St, St Leonards, Sydney, NSW, 2064, Australia.
Background: DNA methylation may have a regulatory role in monogenic sensorineural hearing loss and complex, polygenic phenotypic forms of hearing loss, including age-related hearing impairment or Meniere disease. The purpose of this systematic review is to critically assess the evidence supporting a functional role of DNA methylation in phenotypes associated with hearing loss.
Results: The search strategy yielded a total of 661 articles.
Synchrotron Phase-Contrast Imaging and Cochlear Otosclerosis: A Case Report.
Audiol Neurootol
December 2024
Department of Surgical Sciences, Otorhinolaryngology and Head and Neck Surgery, Uppsala University, Uppsala, Sweden.
Introduction: Otosclerosis is a bone disorder affecting the labyrinthine capsule that leads to conductive and occasionally sensorineural hearing loss. The etiology of otosclerosis remains unknown; factors such as infection, hormones, inflammation, genetics, and autoimmunity have been discussed. Treatment consists primarily of surgical stapes replacement and cochlear implantation.
View Article and Find Full Text PDFHistory of Eugenics in Otorhinolaryngology: Ernst Rüdin and the International Eugenics Network.
Int Arch Otorhinolaryngol
April 2024
Hohendodeleben, Saxony-Anhalt, Germany.
The early geneticist and psychiatrist Ernst Rüdin (1874-1952) became one of the key figures in the eugenics movement and in the German health system of the Nazi era. His connections in the international eugenics network have played an important role in the history of eugenics. To discuss the connections between Ernst Rüdin's scientific group in Munich and Otmar von Verschuer's group in Frankfurt during the Nazi era.
View Article and Find Full Text PDFCavitating Lesions around the Cochlea Can Affect Audiometric Threshold and Clinical Practice.
Audiol Res
October 2023
ENT Department, "Guglielmo da Saliceto" Hospital, 29121 Piacenza, Italy.
There are several pathologies that can change the anatomy of the otic capsule and that can distort the bone density of the bony structures of the inner ear, but otosclerosis is one of the most frequent. Similar behavior has been shown in patients affected by osteogenesis imperfecta (OI), a genetic disorder due to a mutation in the genes coding for type I (pro) collagen. In particular, we note that otosclerosis and OI can lead to bone resorption creating pericochlear cavitations in contact with the internal auditory canal (IAC).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!