Audiological and vestibular features in affected subjects with USH3: A genotype/phenotype correlation

Mehdi Sadeghi, Edward S. Cohn, William J. Kimberling, Lisbeth Tranebjœrg, Claes Möller

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

The aims were to compare the genotype/phenotype relationship between USH3 mutations and the consequent hearing and vestibular phenotype; and to compare hearing loss (HL) progression between Usher syndrome types IB, IIA and USH3. Genetic, audiometric and vestibular examinations were performed in 28 subjects with USH3. Five different mutations in USH3 were identified. Severe HL was present from an early age (4 to 6 years) in 35% of subjects with USH3. Progression of HL begins in the first decade, and approximately 50% of subjects with USH3 become profoundly deaf by age 40. Various vestibular abnormalities were found in about half (10/22) of the tested subjects with USH3. Depending on the severity of HL, subjects with USH3 might be misdiagnosed as either Usher type IB or UA. The results from this study can be used as discriminatory features in differential diagnosis of this syndrome.

Original languageEnglish (US)
Pages (from-to)307-316
Number of pages10
JournalInternational Journal of Audiology
Volume44
Issue number5
DOIs
StatePublished - May 2005

Keywords

  • Phenotype-genotype correlation
  • Progressive hearing loss
  • USH3
  • Usher syndrome
  • Usher syndrome type III
  • Vestibular deficiency

ASJC Scopus subject areas

  • Language and Linguistics
  • Linguistics and Language
  • Speech and Hearing

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