MUTATION REPORTS
GPR98 mutations cause Usher syndrome type 2 in males
1 Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
2 Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany
3 McGill Ocular Genetics Laboratory, McGill University Health Centre Research Institute, Montreal, QC, Canada
4 Department of Otolaryngology, Head and Neck Surgery, Hearing Research Center, University of Tübingen Medical Center, Tübingen, Germany
Correspondence to:
Dr H J Bolz, Institute of Human Genetics, University Hospital of Cologne, Kerpener Str. 34, 50931 Cologne, Germany; hanno.bolz{at}uk-koeln.de
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.
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