Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene

Acta otorrinolaringológica española
J Gallo-TeránF Moreno Herrero

Abstract

To determine the features of hearing loss due to the Q829X mutation in the OTOF gene, the third most frequent mutation causing prelingual deafness reported so far in the Spanish population. We carried out genetic characterisation of 16 individuals from a consanguineous family from Cantabria, in which 4 members were affected by deafness. All 4 hearing impaired individuals were homozygous for the Q829X mutation in the OTOF gene. The auditory defect was a profound, bilateral, symmetrical, sensorineural hearing loss of prelingual onset. No other clinical alterations were observed. Individuals heterozygous for the Q829X mutation were unaffected. The Q829X mutation in the OTOF gene causes severe to profound sensorineural hearing loss of prelingual onset. Early detection of individuals carrying this mutation is important for the application of palliative treatment and special education.

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