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Next‐generation genetic testing for retinitis pigmentosa

dc.contributor.authorSikkema‐raddatz, Birgiten_US
dc.contributor.authorSijmons, Rolf H.en_US
dc.date.accessioned2012-07-12T17:23:09Z
dc.date.available2013-08-01T14:04:39Zen_US
dc.date.issued2012-06en_US
dc.identifier.citationSikkema‐raddatz, Birgit ; Sijmons, Rolf H. (2012). "Nextâ generation genetic testing for retinitis pigmentosa ." Human Mutation 33(6): 963-972. <http://hdl.handle.net/2027.42/92029>en_US
dc.identifier.issn1059-7794en_US
dc.identifier.issn1098-1004en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/92029
dc.description.abstractMolecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes known to date. Here, we developed a comprehensive next‐generation sequencing (NGS) approach for the clinical molecular diagnostics of RP. All known inherited retinal disease genes ( n = 111) were captured and simultaneously analyzed using NGS in 100 RP patients without a molecular diagnosis. A systematic data analysis pipeline was developed and validated to prioritize and predict the pathogenicity of all genetic variants identified in each patient, which enabled us to reduce the number of potential pathogenic variants from approximately 1,200 to zero to nine per patient. Subsequent segregation analysis and in silico predictions of pathogenicity resulted in a molecular diagnosis in 36 RP patients, comprising 27 recessive, six dominant, and three X‐linked cases. Intriguingly, De novo mutations were present in at least three out of 28 isolated cases with causative mutations. This study demonstrates the enormous potential and clinical utility of NGS in molecular diagnosis of genetically heterogeneous diseases such as RP. De novo dominant mutations appear to play a significant role in patients with isolated RP, having major implications for genetic counselling. Hum Mutat 33:963–972, 2012. © 2012 Wiley Periodicals, Inc.en_US
dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.subject.otherClinical Molecular Diagnosticsen_US
dc.subject.otherBlindnessen_US
dc.subject.otherRetinitis Pigmentosaen_US
dc.subject.otherDNA Diagnosticsen_US
dc.subject.otherNGSen_US
dc.titleNext‐generation genetic testing for retinitis pigmentosaen_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.affiliationumDepartment of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michiganen_US
dc.contributor.affiliationotherDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.en_US
dc.contributor.affiliationotherAugen Zentrum Siegburg, Siegburg, Germanyen_US
dc.contributor.affiliationotherRotterdam Eye Hospital, Rotterdam, The Netherlandsen_US
dc.contributor.affiliationotherInstitute for Genetic and Metabolic Disease, Nijmegen, The Netherlandsen_US
dc.contributor.affiliationotherNijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlandsen_US
dc.contributor.affiliationotherDepartment of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlandsen_US
dc.contributor.affiliationotherDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlandsen_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/92029/1/22045_ftp.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/92029/2/humu_22045_sm_SuppInfo.pdf
dc.identifier.doi10.1002/humu.22045en_US
dc.identifier.sourceHuman Mutationen_US
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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