Late postnatal onset of hearing loss due to GJB2 mutations

Int J Pediatr Otorhinolaryngol. 2006 Jun;70(6):1119-24. doi: 10.1016/j.ijporl.2005.10.026. Epub 2006 Feb 15.

Abstract

GJB2 mutations account for approximately 50% of recessive non-syndromic deafness, with 35delG being the most prevalent. Homozygous 35delG mutations cause pre-lingual, non-progressive hearing loss that is detected on newborn hearing screening programmes. We present a sibling pair with homozygous 35delG mutations, who passed hearing tests in early infancy and developed progressive sensorineural hearing loss, one requiring a cochlear implant. These cases illustrate that deafness due to such mutations may have a late onset and consequently be missed on neonatal screening programmes and they may present an argument to consider neonatal screening for GJB2 mutations in order to aid early intervention.

Publication types

  • Case Reports

MeSH terms

  • Audiometry, Pure-Tone
  • Auditory Threshold / physiology
  • Child, Preschool
  • Cochlear Implantation
  • Connexin 26
  • Connexins / genetics*
  • Disease Progression
  • Evoked Potentials, Auditory, Brain Stem / physiology
  • Female
  • Gene Deletion
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Tests
  • Homozygote
  • Humans
  • Infant
  • Male
  • Mutation / genetics*
  • Reflex, Acoustic / physiology

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26