J Med Genet 41:872-876 doi:10.1136/jmg.2004.020628
  • Letters to JMG

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

  1. T B Kim1,
  2. B Isaacson1,
  3. T A Sivakumaran1,*,
  4. A Starr2,
  5. B J B Keats3,
  6. M M Lesperance1
  1. 1Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, MI 48109-0241, USA
  2. 2Department of Neurology, University of California at Irvine, Irvine, CA 92717, USA
  3. 3Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA
  1. 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;
  • Received 30 April 2004
  • Accepted 4 May 2004

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, However, none of the approximately 50 dominant (DFNA) loci are known to represent an auditory neuropathy phenotype.

AN may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease2 and Freidreich’s ataxia.3 AN unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait,4–6 but X linked recessive6 and autosomal dominant7 forms have also been described. We have mapped a gene responsible for autosomal dominant auditory neuropathy in a multigenerational family from the United States to a novel locus, AUNA1 (auditory neuropathy, dominant, 1) on 13q14–21.


The family is of European descent and was ascertained through two different probands by both the University of Michigan and the University of California at Irvine. The Institutional Review Boards of the University of Michigan Medical School, Louisiana State University Health Sciences Center, and the University of California at Irvine approved the study, and informed consent was obtained from all subjects. Four generations were available …