title: Five new OTOF gene mutations and auditory neuropathy.
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.
  
  
  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.
authors.affiliation: Unit of Medical Genetics, Department of Reproductive Science and Development, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Zadro
authors.forename: Andrea
authors.initials: A
authors.lastname: Ciorba
authors.forename: Annalisa
authors.initials: A
authors.lastname: Fabris
authors.forename: Marcello
authors.initials: M
authors.lastname: Morgutti
authors.forename: Patrizia
authors.initials: P
authors.lastname: Trevisi
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.forename: Alessandro
authors.initials: A
authors.lastname: Martini
mesh_terms: D001304:Auditory Diseases, Central / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D017084:Otoacoustic Emissions, Spontaneous; D016133:Polymerase Chain Reaction
chemical_list: D008565:Membrane Proteins; C118457:OTOF protein, human