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dc.contributor.authorHuang, Shurongen_US
dc.contributor.authorLee, Linen_US
dc.contributor.authorHanson, Nancy B.en_US
dc.contributor.authorLenaerts, Catherineen_US
dc.contributor.authorHoehn, Holgeren_US
dc.contributor.authorPoot, Martinen_US
dc.contributor.authorRubin, Craig D.en_US
dc.contributor.authorChen, Da-Fuen_US
dc.contributor.authorYang, Chih-Chaoen_US
dc.contributor.authorJuch, Heikeen_US
dc.contributor.authorDorn, Thomasen_US
dc.contributor.authorSpiegel, Rolanden_US
dc.contributor.authorOral, Elif Ariogluen_US
dc.contributor.authorAbid, Mohammeden_US
dc.contributor.authorBattisti, Carlaen_US
dc.contributor.authorLucci-Cordisco, Emanuelaen_US
dc.contributor.authorNeri, Giovannien_US
dc.contributor.authorSteed, Erin H.en_US
dc.contributor.authorKidd, Alexaen_US
dc.contributor.authorIsley, Williamen_US
dc.contributor.authorShowalter, Daviden_US
dc.contributor.authorVittone, Janet L.en_US
dc.contributor.authorKonstantinow, Alexanderen_US
dc.contributor.authorRing, Johannesen_US
dc.contributor.authorMeyer, Peteren_US
dc.contributor.authorWenger, Sharon L.en_US
dc.contributor.authorHerbay, Axel vonen_US
dc.contributor.authorWollina, Uween_US
dc.contributor.authorSchuelke, Markusen_US
dc.contributor.authorHuizenga, Carin R.en_US
dc.contributor.authorLeistritz, Dru F.en_US
dc.contributor.authorMartin, George M.en_US
dc.contributor.authorMian, I. Sairaen_US
dc.contributor.authorOshima, Junkoen_US
dc.date.accessioned2007-07-11T18:17:25Z
dc.date.available2007-07-11T18:17:25Z
dc.date.issued2006-06en_US
dc.identifier.citationHuang, Shurong; Lee, Lin; Hanson, Nancy B.; Lenaerts, Catherine; Hoehn, Holger; Poot, Martin; Rubin, Craig D.; Chen, Da-Fu; Yang, Chih-Chao; Juch, Heike; Dorn, Thomas; Spiegel, Roland; Oral, Elif Arioglu; Abid, Mohammed; Battisti, Carla; Lucci-Cordisco, Emanuela; Neri, Giovanni; Steed, Erin H.; Kidd, Alexa; Isley, William; Showalter, David; Vittone, Janet L.; Konstantinow, Alexander; Ring, Johannes; Meyer, Peter; Wenger, Sharon L.; Herbay, Axel von; Wollina, Uwe; Schuelke, Markus; Huizenga, Carin R.; Leistritz, Dru F.; Martin, George M.; Mian, I. Saira; Oshima, Junko (2006). "The spectrum of WRN mutations in Werner syndrome patients Communicated by Mark Paalman This article is a US government work and, as such, is in the public domain in the United States of America. ." Human Mutation 27(6): 558-567. <http://hdl.handle.net/2027.42/55244>en_US
dc.identifier.issn1059-7794en_US
dc.identifier.issn1098-1004en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/55244
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=16673358&dopt=citationen_US
dc.description.abstractThe International Registry of Werner syndrome ( www.wernersyndrome.org ) has been providing molecular diagnosis of the Werner syndrome (WS) for the past decade. The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by our group and by others since the WRN gene (also called RECQL2 or REQ3 ) was first cloned in 1996; 25 of these have not previously been published. All WRN mutations reported thus far have resulted in the elimination of the nuclear localization signal at the C-terminus of the protein, precluding functional interactions in the nucleus; thus, all could be classified as null mutations. We now report two new mutations in the N-terminus that result in instability of the WRN protein. Clinical data confirm that the most penetrant phenotype is bilateral ocular cataracts. Other cardinal signs were seen in more than 95% of the cases. The median age of death, previously reported to be in the range of 46–48 years, is 54 years. Lymphoblastoid cell lines (LCLs) have been cryopreserved from the majority of our index cases, including material from nuclear pedigrees. These, as well as inducible and complemented hTERT (catalytic subunit of human telomerase) immortalized skin fibroblast cell lines are available to qualified investigators. Hum Mutat 27(6, 558–567, 2006. Published 2006 Wiley-Liss, Inc.en_US
dc.format.extent505613 bytes
dc.format.extent3118 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.subject.otherLife and Medical Sciencesen_US
dc.subject.otherGeneticsen_US
dc.titleThe spectrum of WRN mutations in Werner syndrome patients Communicated by Mark Paalman This article is a US government work and, as such, is in the public domain in the United States of America.en_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.subject.hlbtoplevelScienceen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDivision of Endocrinology and Metabolism, University of Michigan, Ann Arbor, Michiganen_US
dc.contributor.affiliationotherDepartment of Pathology, University of Washington, Seattle, Washingtonen_US
dc.contributor.affiliationotherDepartment of Pathology, University of Washington, Seattle, Washingtonen_US
dc.contributor.affiliationotherDepartment of Pathology, University of Washington, Seattle, Washingtonen_US
dc.contributor.affiliationotherService de Pediatrie, University of D'Amiens, Amiens Cedex, Franceen_US
dc.contributor.affiliationotherInstitut fur Humangenetik, der Universitat Wurzburg, Wurzburg, Germanyen_US
dc.contributor.affiliationotherLaboratory for Genome Diagnostics, University Medical Center Utrecht, Utrecht, The Netherlandsen_US
dc.contributor.affiliationotherUniversity of Texas Southwestern Medical Center, Dallas, Texasen_US
dc.contributor.affiliationotherDepartment of Neurology, National Taiwan University Hospital, Taipei, Taiwanen_US
dc.contributor.affiliationotherDepartment of Neurology, National Taiwan University Hospital, Taipei, Taiwanen_US
dc.contributor.affiliationotherSwiss Epilepsy Center, Zurich, Switzerlanden_US
dc.contributor.affiliationotherSwiss Epilepsy Center, Zurich, Switzerlanden_US
dc.contributor.affiliationotherHuman Genetics Lab Genetica, Zurich, Switzerlanden_US
dc.contributor.affiliationotherPasteur Institute of Morocco in Tangier, Plateau Marchane, Tangier, Moroccoen_US
dc.contributor.affiliationotherO.U. of Neurometabolic Disease, University of Siena, Siena, Italyen_US
dc.contributor.affiliationotherInstituto di Genetica Medica, Facolta di Medicina “A Gemelli”, Universita Cattolica del S. Cuore, Roma, Italyen_US
dc.contributor.affiliationotherInstituto di Genetica Medica, Facolta di Medicina “A Gemelli”, Universita Cattolica del S. Cuore, Roma, Italyen_US
dc.contributor.affiliationotherNorth Carolina Department of Health and Human Services, Genetics and Newborn Screening Unit, Columbus, North Carolinaen_US
dc.contributor.affiliationotherCentral Regional Genetic Services, Wellington Hospital, Wellington South, New Zealanden_US
dc.contributor.affiliationotherDepartments of Endocrinology, Diabetes, Nutrition, and Metabolism, Mayo Clinic, Rochester, Minnesotaen_US
dc.contributor.affiliationotherMedical Genetics, Mayo Clinic, Rochester, Minnesotaen_US
dc.contributor.affiliationotherGeneral Internal Medicine, Mayo Clinic, Rochester, Minnesotaen_US
dc.contributor.affiliationotherDivision of Environmental Dermatology and Allergology GSF/TUM, Department of Dermatology and Allergology, Technical University Munich, Munich, Germanyen_US
dc.contributor.affiliationotherDivision of Environmental Dermatology and Allergology GSF/TUM, Department of Dermatology and Allergology, Technical University Munich, Munich, Germanyen_US
dc.contributor.affiliationotherGenefinder Technologies Ltd., Munich, Germanyen_US
dc.contributor.affiliationotherDivision of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvaniaen_US
dc.contributor.affiliationotherInstitute of Pathology, University of Heidelberg, Germanyen_US
dc.contributor.affiliationotherDepartment of Dermatology, Hospital Dresden-Friedrichstadt, Dresden, Germanyen_US
dc.contributor.affiliationotherDepartment of Neuropediatrics, Charite University Hospital, Berlin, Germanyen_US
dc.contributor.affiliationotherDepartment of Pathology, University of Washington, Seattle, Washingtonen_US
dc.contributor.affiliationotherDepartment of Pathology, University of Washington, Seattle, Washingtonen_US
dc.contributor.affiliationotherDepartment of Pathology, University of Washington, Seattle, Washingtonen_US
dc.contributor.affiliationotherLawrence Berkeley National Laboratory, Berkeley, Californiaen_US
dc.contributor.affiliationotherDepartment of Pathology, University of Washington, Seattle, Washington ; Department of Pathology, Box 357470, University of Washington, 1959 NE Pacific Ave, Seattle, WA 98195-7470en_US
dc.identifier.pmid16673358en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/55244/1/20337_ftp.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1002/humu.20337en_US
dc.identifier.sourceHuman Mutationen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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