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Cochlear implants for DFNA17 deafness.

Michael S Hildebrand1, Michelle G de Silva, R J McKinlay Gardner

  • 1Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia. michael-hildebrand@uiowa.edu

The Laryngoscope
|December 6, 2006
PubMed
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This study identified the MYH9 gene mutation in an Australian family with adult-onset hearing loss. Cochlear implants showed excellent outcomes, suggesting their strong consideration for DFNA17 deafness management.

Area of Science:

  • Genetics
  • Otolaryngology
  • Molecular Biology

Background:

  • DFNA17 is an autosomal dominant, adult-onset sensorineural hearing loss.
  • The causative gene, MYH9, was identified in a single American family in 1997.
  • This study investigates a second family with DFNA17 deafness.

Purpose of the Study:

  • To report clinical and genetic findings in an Australian family with nonsyndromic adult-onset sensorineural hearing loss.
  • To identify the genetic cause of hearing loss in this family.
  • To compare clinical outcomes with previously reported DFNA17 cases.

Main Methods:

  • Detailed clinical assessment of the affected family.
  • Single Nucleotide Polymorphism (SNP) genotyping for genetic analysis.

Related Experiment Videos

  • Direct sequencing of candidate genes, including MYH9.

    • Main Results:

    • The Australian family shares the same MYH9 missense mutation as the original American DFNA17 kindred.
    • This represents the second reported family with DFNA17 deafness.
    • Excellent outcomes were observed with cochlear implantation in the Australian family.

    Conclusions:

    • The MYH9 mutation is confirmed as the cause of DFNA17 deafness in this Australian family.
    • Cochlear implantation appears highly effective for managing DFNA17-related hearing loss.
    • Further research into the genotype-phenotype correlation and treatment efficacy is warranted.