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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 473606.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Authors:Tarpey, Patrick S.; Smith, Raffaella; Pleasance, Erin; Whibley, Annabel; Edkins, Sarah; Hardy, Claire; O'Meara, Sarah; Latimer, Calli; Dicks, Ed; Menzies, Andrew; Stephens, Phil; Blow, Matt; Greenman, Chris; Xue, Yali; Tyler-Smith, Chris; Thompson, Deborah; Gray, Kristian; Andrews, Jenny; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dunmore, Rebecca; Jones, David; Maddison, Mark; Mironenko, Tatiana; Turner, Rachel; Turrell, Kelly; Varian, Jennifer; West, Sofie; Widaa, Sara; Wray, Paul; Teague, Jon; Butler, Adam; Jenkinson, Andrew; Jia, Mingming; Richardson, David; Shepherd, Rebecca; Wooster, Richard; Jia, Mingming; Richardson, David; Shepherd, Rebecca; Wooster, Richard; Tejada, M. Isabel; Martinez, Francisco; Carvill, Gemma; Goliath, Rene; de Brouwer, Arjan P. M.; van Bokhoven, Hans; Van Esch, Hilde; Chelly, Jamel; Raynaud, Martine; Ropers, Hans-Hilger; Abidi, Fatima E.; Srivastava, Anand K.; Cox, James; Luo, Ying; Mallya, Uma; Moon, Jenny; Parnau, Josef; Mohammed, Shehla; Tolmie, John L.; Shoubridge, Cheryl; Corbett, Mark; Gardner, Alison; Haan, Eric; Rujirabanjerd, Sinitdhorn; Shaw, Marie; Vandeleur, Lucianne; Fullston, Tod; Easton, Douglas F.; Boyle, Jackie; Partington, Michael; Hackett, Anna; Field, Michael; Skinner, Cindy; Stevenson, Roger E.; Bobrow, Martin; Turner, Gillian; Schwartz, Charles E.; Gecz, Jozef; Raymond, F. Lucy; Futreal, P. Andrew; Stratton, Michael R.
Language:English
Date of Publication (YYYY-MM-DD):2009-05
Title of Journal:Narure Genetics
Journal Abbrev.:Nat Genet
Volume:41
Issue / Number:5
Start Page:535
End Page:543
Copyright:© 2009 Nature Publishing Group
Review Status:not specified
Audience:Experts Only
Abstract / Description:Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far reported. The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence.
Comment of the Author/Creator:Correspondence to: Michael R Stratton
email: mrs@sanger.ac.uk

Correspondence to: P Andrew Futreal
email: paf@sanger.ac.uk
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
Cambridge Institute of Medical Research, Cambridge, UK
Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, UK
Molecular Genetics Laboratory, Hospital de Cruces, Bizkaia, Spain
Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Av/Campanar, Valencia, Spain
MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town, South Africa
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
Université Paris Descartes; Institut Cochin; INSERM Unité 567; CNRS UMR 8104, Paris, France
INSERM, U930; Centre Hospitalier Régional Universitaire de Tours, Service de Génétique, Tours, France
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin-Dahlem, Germany
JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA
Guy's Hospital, Great Maze Pond, London, UK
Institute of Medical Genetics, Yorkhill Hospital, Glasgow, UK
SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia
GOLD Service, Hunter Genetics, Waratah, New South, Wales, Australia
The University of Adelaide, Adelaide, SA, Australia
Institute of Cancer Research, Surrey, UK
Identifiers:DOI:10.1038/ng.367
ISSN:1061-4036
URL:http://www.nature.com/ng/journal/v41/n5/pdf/ng.367...
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