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.
Statistics from Altmetric.com
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.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.