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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations |
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| Authors: | Katrin Friedrich Lin Lee Dru F Leistritz Gudrun Nürnberg Bidisha Saha Fuki M Hisama Daniel K Eyman Davor Lessel Peter Nürnberg Chumei Li María J Garcia-F-Villalta Carolien M Kets Joerg Schmidtke Vítor Tedim Cruz Peter C Van den Akker Joseph Boak Dincy Peter Goli Compoginis Kivanc Cefle Sukru Ozturk Norberto López Theda Wessel Martin Poot P F Ippel Birgit Groff-Kellermann Holger Hoehn George M Martin Christian Kubisch Junko Oshima |
| Institution: | 1. Center for Molecular Medicine Cologne, Institute of Human Genetics, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany 3. Department of Pathology, University of Washington, Box 357470, 1959 NE Pacific St., Seattle, WA, 98195-7470, USA 2. Center for Molecular Medicine Cologne, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Cologne Centre For Genomics, University of Cologne, Cologne, Germany 4. Department of Medicine, University of Wahsignton, Seattle, WA, USA 5. Toronto General Hospital, Toronto, Canada 6. Hospital de la Princesa, Madrid, Spain 7. Radboud University, Nijmegen, The Netherlands 8. Institut für Humangenetik, Medizinische Hochschule, Hannover, Germany 9. Hospital Sao Sebastiao, Santa Maria da Feira, Portugal 10. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands 11. Riverview Medical Associates, Red Bank, NJ, USA 12. Christian Medical College, Vellore, India 13. University of Southern California, Los Angeles, CA, USA 14. Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey 15. Clinic Hospital Virgen de la Victoria, Malaga, Spain 16. Department of Pediatric Endocrinology, Charité University Hospital, Berlin, Germany 17. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands 18. Department of Dermatology and Venerology, Karl Landsteiner Institute for Dermatological Research, General Hospital St. Poelten, St. Poelten, Austria 19. Department of Human and Medical Genetics, University of Würzburg, Würzburg, Germany |
| Abstract: | Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ family of DNA helicases. Since 1988, the International Registry of Werner syndrome had enrolled 130 molecularly confirmed WS cases from among 110 worldwide pedigrees. We now report 18 new mutations, including two genomic rearrangements, a deep intronic mutation resulting in a novel exon, a splice consensus mutation leading to utilization of the nearby splice site, and two rare missense mutations. We also review evidence for founder mutations among various ethnic/geographic groups. Founder WRN mutations had been previously reported in Japan and Northern Sardinia. Our Registry now suggests characteristic mutations originated in Morocco, Turkey, The Netherlands and elsewhere. |
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