Hanyang Med Rev.  2015 May;35(2):66-71. 10.7599/hmr.2015.35.2.66.

Etiology of Hearing Loss and Genetic Hearing Loss

Affiliations
  • 1Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea. choiby@snubh.org

Abstract

Hearing loss is one of the most common sensory disorders and has numerous environmental and genetic factors that influence its onset and development. Hearing loss can be classified by either the affected anatomic or functional lesion of hearing loss, or as conductive or sensorineural hearing loss (SNHL). Genetic factors account for about 50% of congenital SNHL, and are therefore the most common cause. Molecular genetics research has identified more than 100 genes related to hearing and hearing loss, and shown that the risk of hearing loss caused by non-genetic factor is modified by genetic susceptibility. About 30% of genetic hearing loss is syndromic related and has affected phenotypic markers in other organs that make it easier to correctly diagnose the etiology of the hearing loss. In some cases, hearing loss can precede the pathologies of other organs and in these cases, hearing loss acts as a predictor of the syndrome associated pathologies of other organs. Inheritance of nonsyndromic hearing loss follows common inheritance patterns such as autosomal dominant, autosomal recessive, sex chromosome related, and mitochondrial inheritances. The paucity of predominant phenotypes and ethnic specificity of the prevalence and types of mutations may hinder the genetic diagnosis in nonsyndromic hearing loss. However, progress in elucidating the causal mutations is going forward using stratified genetic diagnostic strategies of candidate genes identified by hearing phenotypes and patterns of inheritance.

Keyword

Hearing Loss; Hearing Loss, Sensorineural; Genetics; Phenotype; Risk Factors

MeSH Terms

Diagnosis
Fibrinogen
Genetic Predisposition to Disease
Genetics
Hearing
Hearing Loss*
Hearing Loss, Sensorineural
Inheritance Patterns
Molecular Biology
Pathology
Phenotype
Prevalence
Risk Factors
Sensation Disorders
Sensitivity and Specificity
Sex Chromosomes
Wills
Fibrinogen

Cited by  1 articles

Etiology and Rehabilitation of Sensorineural Hearing Loss
Seung Hwan Lee
Hanyang Med Rev. 2015;35(2):55-56.    doi: 10.7599/hmr.2015.35.2.55.


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