[Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment]

Acta Otorrinolaringol Esp. 2006 Aug-Sep;57(7):333-5. doi: 10.1016/s0001-6519(06)78722-2.
[Article in Spanish]

Abstract

We report an infant with auditory neuropathy secondary to the Q829X mutation in the gene encoding otoferlin (OTOF). Included in a universal newborn hearing screening program, the subject passed the otoacoustic emission (OAEs) test. Given that the infant had a familial history of deafness auditory brainstem response (ABR) testing was performed, revealing a profound hearing impairment. The genetic study confirmed that the subject was homozygous for the Q829X mutation in OTOF. The patient underwent a cochlear implant, obtaining satisfactory results. The moderately high prevalence of this mutation in the Spanish population could produce a significant false negative rate in newborn hearing screening programs using OAEs.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Cochlear Nerve*
  • Hearing Loss / genetics*
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Vestibulocochlear Nerve Diseases / genetics*

Substances

  • Membrane Proteins
  • OTOF protein, human