Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

Autor: van den Boogaard ML; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Balog J; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Wohlgemuth M; Department of Neurology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Auranen M; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, 00029 Helsinki, Finland., Mitsuhashi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan., van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Straasheijm KR; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., van den Akker RFP; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Kriek M; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Laurense-Bik MEY; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Raz V; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., van Ostaijen-Ten Dam MM; Department of Pediatrics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Hansson KBM; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., van der Kooi EL; Medisch Centrum Leeuwarden, 8934AD, Leeuwarden, the Netherlands., Kiuru-Enari S; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, 00029 Helsinki, Finland., Udd B; Neuromuscular Research Center, Department of Neurology, Tampere University Hospital and University of Tampere, 33520 Tampere, Finland., van Tol MJD; Department of Pediatrics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan., Tawil R; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA., Tapscott SJ; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA., van Engelen BGM; Department of Neurology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands. Electronic address: s.m.van_der_maarel@lumc.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2016 May 05; Vol. 98 (5), pp. 1020-1029.