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.

Five new OTOF gene mutations and auditory neuropathy

CIORBA, Andrea;TREVISI, Patrizia;MARTINI, Alessandro
2010

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.
2010
Zadro, C.; Ciorba, Andrea; Fabris, A.; Morgutti, M.; Trevisi, Patrizia; Gasparini, P.; Martini, Alessandro
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/1398552
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