Familial auditory neuropathy

Laryngoscope. 2003 Sep;113(9):1623-9. doi: 10.1097/00005537-200309000-00041.


Objectives/hypothesis: Auditory neuropathy is a sensorineural hearing disorder characterized by absent or abnormal auditory brainstem responses and normal cochlear outer hair cell function as measured by otoacoustic emission recordings. Many risk factors are thought to be involved in its etiology and pathophysiology. Four Chinese pedigrees with familial auditory neuropathy were presented to demonstrate involvement of genetic factors in the etiology of auditory neuropathy.

Study design: Probands of the above-mentioned pedigrees, who had been diagnosed with auditory neuropathy, were evaluated and followed in the Department of Otolaryngology-Head and Neck Surgery, China People Liberation Army General Hospital (Beijing, China). Their family members were studied, and the pedigree maps established.

Methods: History of illness, physical examination, pure-tone audiometry, acoustic reflex, auditory brainstem responses, and transient evoked and distortion-product otoacoustic emissions were obtained from members of these families. Some subjects received vestibular caloric testing, computed tomography scan of the temporal bone, and electrocardiography to exclude other possible neuropathic disorders.

Results: In most affected patients, hearing loss of various degrees and speech discrimination difficulties started at 10 to 16 years of age. Their audiological evaluation showed absence of acoustic reflex and auditory brainstem responses. As expected in auditory neuropathy, these patients exhibited near-normal cochlear outer hair cell function as shown in distortion product otoacoustic emission recordings. Pure-tone audiometry revealed hearing loss ranging from mild to profound in these patients. Different inheritance patterns were observed in the four families. In Pedigree I, 7 male patients were identified among 43 family members, exhibiting an X-linked recessive pattern. Affected brothers were found in Pedigrees II and III, whereas in pedigree IV, two sisters were affected. All the patients were otherwise normal without evidence of peripheral neuropathy at the time of writing.

Conclusion: Patients with characteristics of nonsyndromic hereditary auditory neuropathy were identified in one large and three smaller Chinese families. Pedigree analysis suggested an X-linked, recessive hereditary pattern in one pedigree and autosomal recessive inheritances in the other three pedigrees. The phenotypes in the study were typical of auditory neuropathy; they were transmitted in different inheritance patterns, indicating clinical and genetic heterogeneity of this disorder. The observed inheritance and clinical audiological findings are different from those previously described for nonsyndromic low-frequency sensorineural hearing loss. This information should facilitate future molecular linkage analyses and positional cloning for the relative genes contributing to auditory neuropathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Audiometry, Pure-Tone
  • China
  • Chromosome Aberrations
  • Chromosome Mapping
  • Chromosomes, Human, X
  • Cochlear Nerve* / physiopathology
  • Evoked Potentials, Auditory, Brain Stem / genetics
  • Evoked Potentials, Auditory, Brain Stem / physiology
  • Female
  • Genes, Recessive
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Male
  • Otoacoustic Emissions, Spontaneous / genetics
  • Otoacoustic Emissions, Spontaneous / physiology
  • Pedigree
  • Reference Values
  • Reflex, Acoustic / genetics
  • Reflex, Acoustic / physiology
  • Sex Chromosome Aberrations
  • Vestibulocochlear Nerve Diseases / diagnosis
  • Vestibulocochlear Nerve Diseases / genetics*
  • Vestibulocochlear Nerve Diseases / physiopathology