Usher syndrome type III: Revised genomic structure of the USH3 gene and identification of novel mutations

Randall R. Fields, Guimei Zhou, Dali Huang, Jack R. Davis, Claes Möller, Samuel G. Jacobsen, William J. Kimberling, Janos Sumegi

Research output: Contribution to journalArticle

60 Scopus citations

Abstract

Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa. The disease gene was localized to 3q25 and recently was identified by positional cloning. In the present study, we have revised the structure of the USH3 gene, including a new translation start site, 5′ untranslated region, and a transcript encoding a 232-amino acid protein. The mature form of the protein is predicted to contain three transmembrane domains and 204 residues. We have found four new disease-causing mutations, including one that appears to be relatively common in the Ashkenazi Jewish population. We have also identified mouse (chromosome 3) and rat (chromosome 2) orthologues, as well as two human paralogues on chromosomes 4 and 10.

Original languageEnglish (US)
Pages (from-to)607-617
Number of pages11
JournalAmerican Journal of Human Genetics
Volume71
Issue number3
DOIs
StatePublished - 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Fields, R. R., Zhou, G., Huang, D., Davis, J. R., Möller, C., Jacobsen, S. G., Kimberling, W. J., & Sumegi, J. (2002). Usher syndrome type III: Revised genomic structure of the USH3 gene and identification of novel mutations. American Journal of Human Genetics, 71(3), 607-617. https://doi.org/10.1086/342098