LETTER TO JMG

A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21

T B Kim¹, B Isaacson¹, T A Sivakumaran^1,*, A Starr², B J B Keats³, M M Lesperance¹

¹ Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, MI 48109-0241, USA
² Department of Neurology, University of California at Irvine, Irvine, CA 92717, USA
³ Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA

Correspondence to:
Correspondence to:
Dr Marci M Lesperance
Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, F6905 Mott, Box 0241, 1500 East Medical Center Drive, Ann Arbor, MI 48109-0241, USA; lesperan@umich.edu

Received 30 April 2004

Accepted 4 May 2004

Abbreviations: ABR, auditory brainstem responses; AN, auditory neuropathy; CIDR, Center for Inherited Disease Research; CMs, cochlear microphonics; ENU, N-ethyl-N-nitrosurea; OAEs, otoacoustic emissions; OHC, outer hair cell; SNHL, sensorineural hearing loss; WS, Wolfram syndrome

Keywords: AUNA1; auditory neuropathy; gene localisation; genetic; hearing loss

The first 150 words of the full text of this article appear below.

Hearing loss is most commonly defined as either conductive, affecting the sound conduction mechanism comprised of the external auditory canal, tympanic membrane, and middle ear ossicles, or sensorineural (SNHL), affecting the cochlea, the auditory nerve, or the central auditory pathway. However, the recent discovery that outer hair cells (OHC) generate otoacoustic emissions (OAEs) has allowed differentiation of sensory hearing loss (in which OAEs are absent) from neural hearing loss, which is caused by a lesion of inner hair cells and/or the auditory nerve. The hallmark of auditory neuropathy (AN), a neural type of hearing loss, is preservation of OAEs and abnormal or absent auditory brainstem responses.¹ Most patients with SNHL are found to have a sensory type of hearing loss, and numerous genes for both syndromic and non-syndromic forms have been identified (Hereditary Hearing Loss Homepage, http://www.uia.ac.be/dnalab/hhh/). However, none of the approximately 50 dominant (DFNA) loci are known to . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Weber, T., Corbett, M. K., Chow, L. M. L., Valentine, M. B., Baker, S. J., Zuo, J. (2008). Rapid cell-cycle reentry and cell death after acute inactivation of the retinoblastoma gene product in postnatal cochlear hair cells. Proc. Natl. Acad. Sci. USA 105: 781-785 [Abstract] [Full Text]  
• Noguchi, Y., Kurima, K., Makishima, T., de Angelis, M. H., Fuchs, H., Frolenkov, G., Kitamura, K., Griffith, A. J. (2006). Multiple Quantitative Trait Loci Modify Cochlear Hair Cell Degeneration in the Beethoven (Tmc1Bth) Mouse Model of Progressive Hearing Loss DFNA36. Genetics 173: 2111-2119 [Abstract] [Full Text]  
• Wang, Q J, Li, Q Z, Rao, S Q, Lee, K, Huang, X S, Yang, W Y, Zhai, S Q, Guo, W W, Guo, Y F, Yu, N, Zhao, Y L, Yuan, H, Guan, J, Leal, S M, Han, D Y, Shen, Y (2006). AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.. J. Med. Genet. 43: e33-e33 [Abstract] [Full Text]