Otoacoustic emissions and brainstem evoked potentials in compound carriers of connexin 26 mutations

Hear Res. 2003 Jan;175(1-2):140-51. doi: 10.1016/s0378-5955(02)00719-0.


This study compares the effects of mutations in the gap junction protein connexin 26 (Cx26), on outer hair cells (OHCs), inner hair cells (IHCs) and auditory nerve/brainstem among carriers of these mutations. One hundred and twenty eight individuals, from a village with widespread consanguinity and congenital deafness, due to three Cx26 mutations, were selected among relatives of deaf persons, and divided into non-carriers, carriers of one mutation, homozygous to one mutation, or compound heterozygous carriers of two different mutations. Distortion product otoacoustic emissions (DPOAEs), auditory brainstem responses (ABRs) and audiometric evaluation were compared in these genetic groups. Hearing loss among homozygotes and compound heterozygotes was comparable and ranged from mild to profound. Most ABRs from these groups showed no responses or partial responses (peaks III, V) with prolonged latencies, but some individuals had all peaks at normal latencies. DPOAEs were absent, except sporadic responses. Carriers of one mutation had significantly smaller DPOAEs compared to non-carriers, although normal pure tone audiograms and ABRs were found in these groups. In conclusion, based on DPOAEs, Cx26 mutations may impact OHC function among carriers of one or two Cx26 mutations. IHC/nerve impairment among homozygotes and compound heterozygotes is variable. OHCs may be more susceptible to Cx26 mutations compared to IHCs and the auditory nerve and brainstem pathway activated by them.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Audiometry, Pure-Tone
  • Child
  • Child, Preschool
  • Connexin 26
  • Connexins / genetics*
  • Consanguinity
  • Deafness / congenital
  • Deafness / genetics*
  • Deafness / physiopathology*
  • Evoked Potentials, Auditory, Brain Stem*
  • Heterozygote*
  • Homozygote
  • Humans
  • Middle Aged
  • Mutation*
  • Otoacoustic Emissions, Spontaneous*
  • Perceptual Distortion


  • Connexins
  • GJB2 protein, human
  • Connexin 26