Late postnatal onset of hearing loss due to GJB2 mutations.
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.
Pagarkar
Waheeda
W
Department of Audiology, Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1N 3JH, UK.
Bitner-Glindzicz
Maria
M
Knight
Jeffrey
J
Sirimanna
Tony
T
D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold / Q000502:physiology; D002675:Child, Preschool; D019929:Cochlear Implantation; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D018450:Disease Progression; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005260:Female; D017353:Gene Deletion; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006320:Hearing Tests; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D012022:Reflex, Acoustic / Q000502:physiology
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26