Five new OTOF gene mutations and auditory neuropathy.
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.
Zadro
Cristina
C
Unit of Medical Genetics, Department of Reproductive Science and Development, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Ciorba
Andrea
A
Fabris
Annalisa
A
Morgutti
Marcello
M
Trevisi
Patrizia
P
Gasparini
Paolo
P
Martini
Alessandro
A
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
D008565:Membrane Proteins; C118457:OTOF protein, human