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Mutation report
GPR98 mutations cause Usher syndrome type 2 in males
  1. I Ebermann1,
  2. M H J Wiesen2,
  3. E Zrenner2,
  4. I Lopez3,
  5. R Pigeon3,
  6. S Kohl2,
  7. H Löwenheim4,
  8. R K Koenekoop3,
  9. H J Bolz1
  1. 1
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
  2. 2
    Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany
  3. 3
    McGill Ocular Genetics Laboratory, McGill University Health Centre Research Institute, Montreal, QC, Canada
  4. 4
    Department of Otolaryngology, Head and Neck Surgery, Hearing Research Center, University of Tübingen Medical Center, Tübingen, Germany
  1. Dr H J Bolz, Institute of Human Genetics, University Hospital of Cologne, Kerpener Str. 34, 50931 Cologne, Germany; hanno.bolz{at}uk-koeln.de

Abstract

Mutations in the large GPR98 gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female. It was speculated that GPR98 mutations cause a more severe, and eventually lethal, phenotype in males. We describe for the first time two male patients with USH2 with novel GPR98 mutations. Clinical characterization of a male patient and his affected sister revealed a typical USH2 phenotype in both. GPR98 may have been excluded from systematic investigation in previous studies, and the proportion of patients with USH2C probably underestimated. GPR98 should be considered in patients with USH2 of both sexes.

https://doi.org/10.1136/jmg.2008.059626

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    Footnotes

    • Funding: Supported by grants BO 2954/1-1 (Deutsche Forschungsgemeinschaft), Koeln Fortune Program, grant 113/2004 (Faculty of Medicine, University of Cologne), Forschung contra Blindheit, Initiative Usher-Syndrom e.V., and Gertrud Kusen-Stiftung to HJB, KFO 134 (Deutsche Forschungsgemeinschaft) and LSHG-CT-2005-512036 (EU, EVI Genoret) to MHJW, SK and EZ, and Foundation Fighting Blindness Canada and Fonds de la Recherche en Sante de Quebec, to RKK.

    • Competing interests: None.