MUTATION IN BRIEF Published Online: 23 Jan 2001 HUMAN MUTATION Mutation in Brief #396 (2000) Online Five Novel RPGR Mutations in Families with XLinked Retinitis Pigmentosa Maria Guevara-Fujita1, Stacey Fahrner1, Kinga Buraczynska1, Jason Cook1, Dianna Wheaton2, Fanny Cortes3, Cesar Vicencio 3, Marcela Pena3, Gerald A. Fishman4, Helen Mintz-Hittner5, David Birch2, Dennis Hoffman2, Alan J. Mears1, Ricardo Fujita1,6 and Anand Swaroop1,7 1Departments of Ophthalmology & Visual Sciences and 7Human Genetics, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA; 2Retina Foundation of the Southwest, Dallas, TX, USA; 3INTA Universidad de Chile, Santiago, Chile; 4University of Illinois Eye and Ear Infirmary, Chicago, IL, USA; 5Department of Ophthalmology and Visual Sciences, University of Texas, Houston, TX, USA; 6Facultad de Medicina, Universidad San Martin de Porres, Lima, Peru. Note: First two authors contributed equally. Human retinitis pigmentosa GTPase regulator (RPGR) Patient ID Exon / Intron Nucleotide sequence change* Effect of Mutation A316 Exon 2 160delA Frameshift A1014 Exon 7 789A>T K244X A1021 Intron 8 IVS8+1G>C Splicing error, exon 8 skipped A1066 Exon 10 1147insT Frameshift A1192 Exon 11 1366G>A G436D