Five new OTOF gene mutations and auditory neuropathy

Cristina Zadro, Andrea Ciorba, Annalisa Fabris, Marcello Morgutti, Patrizia Trevisi, Paolo Gasparini, Alessandro Martini

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: Purpose of this paper is to analyse OTOF gene in a series of subjects affected by auditory neuropathy. Methods: Four children showing mild to profound prelingual deafness, confirmed by the absence of a clear and detectable responses at auditory brainstem responses (ABR), associated with the presence of bilateral OAE, were enrolled in the study. Results and Conclusions: Genetic analysis identified five new mutations (a nonsense, a small and a large deletion and two splicing site mutations), and one missense mutation (F1795C) previously described. These results further confirm the role of OTOF gene in auditory neuropathy. In the absence of a context of neurological syndrome, the combination of absent ABR and positive OAE responses should lead to an auditory neuropathy diagnosis and to a mutational screening in OTOF.

Original languageEnglish
Pages (from-to)494-498
Number of pages5
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume74
Issue number5
DOIs
Publication statusPublished - May 2010

Keywords

  • Auditory neuropathy
  • Children
  • Cochlear implantation
  • Congenital deafness
  • DFNB9
  • Otoferlin

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Pediatrics, Perinatology, and Child Health

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