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International Journal of Pediatric Otorhinolaryngology
Article . 2014 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
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Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family

Authors: Reinhard, Ramsebner; Martin, Koenighofer; Thomas, Parzefall; Trevor, Lucas; Christian, Schoefer; Klemens, Frei;

Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family

Abstract

Similar to other zona pellucida mutations in the alpha-tectorin (TECTA) gene, the p.Y1870C alteration in DFNA8/12 causes prelingual, nonsyndromic, autosomal dominant hearing loss. Here we investigated the effect of p.Y1870C on reverse transduction by audiometric studies in the family.Pure tone audiometry, brainstem evoked response audiometry, the Freiburger test for speech understanding and transient evoked and distortion product otoacoustic emissions were assessed in three available affected members bearing p.Y1870C.Pure tone audiometry showed U-shaped curves with moderate to severe degrees of hearing impairment confirmed by brainstem evoked response audiometry. Transient evoked and distortion product otoacoustic emissions were completely absent in all affected family members whereas word recognition scores were up to 95%.Although the missense p.Y1870C TECTA mutation leads to complete failure of the cochlear amplifier in humans, very high speech perception scores can be achieved with appropriate therapy.

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Keywords

Adult, Male, Extracellular Matrix Proteins, Heterozygote, Hearing Loss, Sensorineural, Otoacoustic Emissions, Spontaneous, Mutation, Missense, Middle Aged, GPI-Linked Proteins, Pedigree, Young Adult, Austria, Evoked Potentials, Auditory, Brain Stem, Speech Perception, Audiometry, Pure-Tone, Humans, Female

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
2
Average
Average
Average
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