2003
DOI: 10.1002/humu.10274
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Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)

Abstract: Inherited hearing impairment affects one in 2,000 newborns. Nonsyndromic prelingual forms are inherited mainly as autosomal recessive traits, for which 16 genes are currently known. Mutations in the genes encoding connexins 26 and 30 account for up to 50% of these cases. However, the individual contribution of the remaining genes to the whole remains undetermined. In addition, for most of the genes there is a need for studies on genotype-phenotype correlations, to identify distinctive clinical features which m… Show more

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Cited by 189 publications
(187 citation statements)
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“…Phenotypes caused by mutations of otoferlin have been classified as auditory neuropathies because patients lack auditory brainstem responses but exhibit normal otoacoustic emissions (Rodriguez-Ballesteros et al, 2003;Varga et al, 2003). This phenotype also has been demonstrated in genetically engineered Otof-deficient mice (Roux et al, 2006) and in mice with an ENU-induced D1772G missense mutation in the C2F domain of otoferlin (Schwander et al, 2007).…”
Section: Discussionmentioning
confidence: 99%
“…Phenotypes caused by mutations of otoferlin have been classified as auditory neuropathies because patients lack auditory brainstem responses but exhibit normal otoacoustic emissions (Rodriguez-Ballesteros et al, 2003;Varga et al, 2003). This phenotype also has been demonstrated in genetically engineered Otof-deficient mice (Roux et al, 2006) and in mice with an ENU-induced D1772G missense mutation in the C2F domain of otoferlin (Schwander et al, 2007).…”
Section: Discussionmentioning
confidence: 99%
“…The involvement of optic nerves as well as the post-lingual onset is inconsistent with mutations of both otoferlin (Rodriguez-Ballesteros et al, 2003) and pejvakin genes (Delmaghani et al, 2006). Mutations affecting mitochondrial functions of both optic and auditory nerves are candidate etiologies in these patients (Ceranić and Luxon, 2004;Amati-Bonneau et al, 2005).…”
Section: Adaptation Of Ecochg Potentials In Anmentioning
confidence: 99%
“…However, it is known that AN accompanies disorders of the auditory nerve (post-synaptic or Type I AN; Starr et al, 2003), and disorders of inner hair cells and their synapses with auditory nerve terminals (pre-synaptic or Type II AN; Starr et al, 2004;Rodriguez-Ballesteros et al, 2003). Temporal bone analyses from patients with Type I AN (Spoendlin, 1974;Hallpike et al, 1980;Starr et al, 2003) reveal loss of auditory ganglion cells and their processes with remaining axons and dendrites showing myelin and axonal abnormalities.…”
Section: Introductionmentioning
confidence: 99%
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“…Such studies should show whether a different, yet uncharacterized protein replaces otoferlin's function or whether the otoferlin interactome may only be required for a defined time span during cochlear maturation. Despite such open questions it is clear that otoferlin plays a crucial role in the inner ear's function with mutations resulting in auditory neuropathy (44). …”
Section: Otoferlin's Interactomementioning
confidence: 99%