Temperature sensitive auditory neuropathy

Hear Res. 2016 May:335:53-63. doi: 10.1016/j.heares.2016.01.008. Epub 2016 Jan 15.

Abstract

Temperature sensitive auditory neuropathy is a very rare and puzzling disorder. In the present study, we reported three unrelated 2 to 6 year-old children who were diagnosed as auditory neuropathy patients who complained of severe hearing loss when they had fever. Their hearing thresholds varied from the morning to the afternoon. Two of these patients' hearing improved with age, and one patient received positive results from cochlear implant. Genetic analysis revealed that these three patients had otoferlin (OTOF) homozygous or compound heterozygous mutations with the genotypes c.2975_2978delAG/c.4819C>T, c.4819C>T/c.4819C>T, or c.2382_2383delC/c.1621G>A, respectively. Our study suggests that these gene mutations may be the cause of temperature sensitive auditory neuropathy. The long term follow up results suggest that the hearing loss in this type of auditory neuropathy may recover with age.

Keywords: Auditory neuropathy; Cochlear implant; OTOF; Otoferlin; Temperature-sensitive.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Cochlear Implantation
  • Cochlear Implants
  • Deafness / diagnosis*
  • Deafness / genetics
  • Family Health
  • Fever / physiopathology
  • Genotype
  • Hearing
  • Hearing Loss / diagnosis*
  • Hearing Loss / genetics
  • Hearing Loss, Central / diagnosis*
  • Hearing Loss, Central / genetics
  • Hearing Tests
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Phenotype
  • Temperature*

Substances

  • Membrane Proteins
  • OTOF protein, human

Supplementary concepts

  • Auditory neuropathy