Genetics of Hearing and Deafness

Research output: Contribution to journalArticle

46 Citations (Scopus)

Abstract

This article is a review of the genes and genetic disorders that affect hearing in humans and a few selected mouse models of deafness. Genetics is playing an increasingly critical role in the practice of medicine. This is not only in part to the importance that genetic knowledge has on traditional genetic diseases but also in part to the fact that genetic knowledge provides an understanding of the fundamental biological process of most diseases. The proteins coded by the genes related to hearing loss (HL) are involved in many functions in the ear, such as cochlear fluid homeostasis, ionic channels, stereocilia morphology and function, synaptic transmission, gene regulation, and others. Mouse models play a crucial role in understanding of the pathogenesis associated with these genes. Different types of familial HL have been recognized for years; however, in the last two decades, there has been tremendous progress in the discovery of gene mutations that cause deafness. Most of the cases of genetic deafness recognized today are monogenic disorders that can be broadly classified by the mode of inheritance (i.e., autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance) and by the presence of associated phenotypic features (i.e., syndromic; and nonsyndromic). In terms of nonsyndromic HL, the chromosomal locations are currently known for ~ 125 loci (54 for dominant and 71 for recessive deafness), 64 genes have been identified (24 for dominant and 40 for recessive deafness), and there are many more loci for syndromic deafness and X-linked and mitochondrial DNA disorders (http://hereditaryhearingloss.org). Thus, today's clinician must understand the science of medical genetics as this knowledge can lead to more effective disease diagnosis, counseling, treatment, and prevention.

Original languageEnglish
Pages (from-to)1812-1829
Number of pages18
JournalAnatomical Record
Volume295
Issue number11
DOIs
StatePublished - Nov 1 2012

Fingerprint

deafness
hearing
Deafness
Hearing
gene
Inborn Genetic Diseases
genes
genetic disorders
Hearing Loss
Genes
inheritance (genetics)
animal models
Stereocilia
medical sciences
Biological Phenomena
Mitochondrial Diseases
X-Linked Genes
synaptic transmission
loci
Mitochondrial Genes

Keywords

  • Diagnosis
  • Gene
  • Genetics
  • Mutation
  • Nonsyndromic hearing loss
  • Treatment

ASJC Scopus subject areas

  • Anatomy
  • Histology
  • Ecology, Evolution, Behavior and Systematics
  • Biotechnology

Cite this

Genetics of Hearing and Deafness. / Angeli, Simon I; Lin, Xi; Liu, Xue Z.

In: Anatomical Record, Vol. 295, No. 11, 01.11.2012, p. 1812-1829.

Research output: Contribution to journalArticle

Angeli, Simon I ; Lin, Xi ; Liu, Xue Z. / Genetics of Hearing and Deafness. In: Anatomical Record. 2012 ; Vol. 295, No. 11. pp. 1812-1829.
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