These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene].
    Author: Gallo-Terán J, Megía López R, Morales-Angulo C, del Castillo I, Moreno-Pelayo MA, Mazón Gutiérrez A, Moreno Herrero F.
    Journal: Acta Otorrinolaringol Esp; 2004 Mar; 55(3):120-5. PubMed ID: 15253338.
    Abstract:
    OBJECTIVE: 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. MATERIALS AND METHODS: We carried out genetic characterisation of 16 individuals from a consanguineous family from Cantabria, in which 4 members were affected by deafness. RESULTS: 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. CONCLUSIONS: 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.
    [Abstract] [Full Text] [Related] [New Search]