Open AccessGenetic Update on Auditory Neuropathy
Author(s) -
Sandrine Marlin,
Laurence Jonard,
Natalie Loundon,
Crystel Bonnet,
Nicolas Leboulanger,
Lionel Van Maldergem,
Souad Gherbi,
Malek Louha,
Paul Deltenre,
Jean Louis Collette,
R. Couderc,
E.N. Garabédian,
Françoise Denoyelle
Publication year - 2011
Publication title -
audiology and neurotology extra
Language(s) - English
Resource type - Journals
ISSN - 1664-5537
DOI - 10.1159/000329545
Subject(s) - auditory neuropathy , brainstem , sensorineural hearing loss , cochlea , audiology , medicine , pathophysiology , outer hair cells , phenotype , hearing loss , neuroscience , genetics , gene , biology , pathology
Auditory neuropathy (AN) is defined as a sensorineural hearing impairment (HI) characterized by preserved cochlear outer hair cell function with normal otoacoustic emissions but abnormal or absent brainstem evoked potentials. The prevalence of AN in HIs remains to be established and its pathophysiology has not been determined. Several environmental and genetic causes have been identified, but the majority of cases remain unexplained. In the last 10 years, many genes have been identified in isolated and/or syndromic HI. Some of them (OTOF, PJVK, DIAPH3, OPA1, FXN, PMP22, ERCC6, ERCC8, SLC19A2 and TIMM8A, for example) are responsible for phenotypes corresponding to the AN definition. This review will focus on isolated and syndromic forms of AN for which the causative genes have been identified.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom