Deafness: Hereditary


There are 45 genes known to cause nonsyndromic hearing impairment, and more are expected to be discovered in the next few years. However, difficulties in genetic linkage analysis, coupled with the possible involvement of environmental causes, have prevented the characterization of the main genes that are causative or predisposing to the lateā€onset forms of deafness.

Keywords: deafness genes; audition; inner ear; cochlea; hair cells

Figure 1.

Schematic representation of the human ear. The outer ear is made up of the auricle and the external auditory canal, and is closed by the tympanic membrane. The middle ear consists of an air cavity containing a chain of three ossicles (malleus, incus, stapes). The inner ear comprises six sensory organs, namely the cochlea and the five vestibular end organs (saccule, utricle and three semicircular canals). At the junction between the utricle and the saccule is the endolymphatic canal, ending with the endolymphatic sac. From Petit et al..

Figure 2.

Electron micrographs of stereocilia and their tip links: (a) the hair bundle of an OHC and (b) detail of the stereocilia from two adjacent rows. The tip link connects the apex of each stereocilium to the side of the taller adjacent one. Courtesy of R Romand, France.

Figure 3.

Cross‐section through the cochlear duct. The membranous labyrinth of the cochlea (cochlear duct) divides the bony labyrinth into three canals, namely the scala vestibuli and the scala tympani, both filled with perilymph, and the scala media, filled with endolymph. The organ of Corti, which is the auditory transduction apparatus, protrudes in the scala media. This organ is made up of (1) an array of sensory cells, that is, the single row of inner hair cells (IHCs) and the triple row of outer hair cells (OHCs) and (2) different types of supporting cells, which include the pillar cells (P), cells of Deiters (D) and cells of Hensen (H). The organ of Corti is covered by an acellular gel, the tectorial membrane, and is flanked by the epithelial cells of the inner sulcus (IS) on the medial side and by the cells of Claudius (C) on the lateral side. The stria vascularis, on the lateral wall of the cochlear duct, is responsible for the secretion of K+ into the endolymph and for the production of the endocochlear potential. Different types of fibrocytes surround the cochlear epithelium. Other abbreviations: I, interdental cells; SP, spiral prominence. Adapted from a figure drawn by Küssel‐Andermann P in Petit et al..

Figure 4.

Schematic representation of an IHC. Note the highly organized hair bundle, made up of three rows of stereocilia, at the apical pole of the cell. The ribbon synapse has particular structural and functional features. Three specific structures of the actin cytoskeleton are shown: (1) the filaments of stereocilia; (2) the cuticular plate, a dense meshwork of horizontal filaments running parallel to the apical cell surface and (3) the cortical network, beneath the plasma membrane.



von Békésy G (1960) Experiments in Hearing. New York, NY: McGraw‐Hill.

Denoyelle F, Marlin S, Weil D et al. (1999) Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin 26 gene defect: implications for genetic counseling. The Lancet 353: 1298–1303.

DeStefano AL, Gates GA, Heard‐Costa N, Myers RH and Baldwin CT (2003) Genomewide linkage analysis to presbycusis in the Framingham Heart Study. Archives of Otolaryngology Head & Neck Surgery 129: 285–289.

Friedman T, Battey J, Kachar B et al. (2000) Modifier genes of hereditary hearing loss. Current Opinion in Neurobiology 10: 487–493.

Gorlin RJ, Toriello HV and Cohen MM (eds) (1995) Hereditary Hearing Loss and its Syndromes, vol. 28, chaps 6–15, pp. 62–433. New York, NY: Oxford University Press.

Menger DJ and Tange RA (2003) The aetiology of otosclerosis: a review of the literature. Clinical Otolaryngology and Allied Sciences 28: 112–120.

Ménière P (1856) Du mariage entre parents considéré comme cause de la surdi‐mutité congénitale. Gazette Médicale de Paris 3: 303–306.

Petit C (2006) From deafness genes to hearing mechanisms: harmony and counterpoint. Trends in Molecular Medicine 12: 57–64.

Petit C, Levilliers J and Hardelin J‐P (2001) Molecular genetics of hearing loss. Annual Review of Genetics 35: 589–646.

Petit C, Levilliers J, Marlin S and Hardelin J‐P (2001) Hereditary hearing loss. In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, vol. IV, pp. 6281–6328. Montreal: McGraw‐Hill.

Ryan A and Dallos P (1975) Effect of absence of cochlear outer hair cells on behavioral auditory threshold. Nature 253: 44–46.

Wangemann P (2002) K+ cycling and the endocochlear potential. Hearing Research 165: 1–9.

Further Reading

Dallos P, Popper AN and Fay RR (1996) Overview: cochlear neurobiology. In: Fay RR and Popper AN (eds) The Cochlea, vol. 8, chap. 1, pp. 1–43. New York, NY: Springer.

Hudspeth AJ (2000) Hearing. In: Kandell ER, Schwartz JH and Jessell TM (eds) Principles of Neural Science, chap. 30, pp. 590–613. London: Prentice‐Hall.

Hudspeth AJ (2000) Sensory transduction in the ear. In: Kandell ER, Schwartz JH and Jessell TM (eds) Principles of Neural Science, chap. 31, pp. 614–624. London: Prentice‐Hall.

Rubel EW, Popper AN and Fay RR (eds) (1997) Development of the auditory system. In: Springer Handbook of Auditory Research, vol. 9. New York, NY: Springer.

Web Links

Hereditary: Hearing Loss Homepage This site lists data and links for all known gene localization and identifications for nonsyndromic hearing impairment. For syndromic hearing impairment, only a few of the most frequent forms are covered.

Online Mendelian Inheritance in Man (OMIM)

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Hardelin, Jean‐Pierre, Levilliers, Jacqueline, and Petit, Christine(Jul 2008) Deafness: Hereditary. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005511.pub2]