AI Article Synopsis
- The p.Y1870C mutation in the TECTA gene causes prelingual, nonsyndromic, autosomal dominant hearing loss, similar to other mutations in the zona pellucida.
- Audiometric studies on family members with this mutation showed significant hearing impairment, with pure tone audiometry indicating a U-shaped curve and brainstem tests confirming the results.
- Despite the complete absence of otoacoustic emissions, affected individuals still achieved high speech recognition scores, suggesting effective therapeutic interventions.
Article Abstract
Objectives: 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.
Methods: 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.
Results: 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%.
Conclusions: 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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| http://dx.doi.org/10.1016/j.ijporl.2014.02.025 | DOI Listing |
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