A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

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, Christopher, 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 ORCID: https://orcid.org/0000-0001-7226-9074, 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 and Stratton, Michael R. (2009) A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nature Genetics, 41 (5). pp. 535-543. ISSN 1061-4036

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Abstract

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.

Item Type:	Article
Additional Information:	Funding information: The work was supported by the European Community's Seventh Framework Programme-the GEN2PHEN Project, the New South Wales Department of Health, the Australian NHMRC, the SMILE foundation, the WCH Foundation, D. Harwood, EU grant QLG3-CT- 2002-01810 (EURO-MRX), US National Institutes of Health (HD26202) to C.E.S., the South Carolina Department of Disabilities and Special Needs (SCDDSN), Action Medical Research and the Wellcome Trust.
Uncontrolled Keywords:	sdg 3 - good health and well-being ,/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being
Faculty \ School:	Faculty of Science > School of Environmental Sciences Faculty of Science > School of Computing Sciences Faculty of Medicine and Health Sciences > Norwich Medical School Faculty of Science > School of Biological Sciences
UEA Research Groups:	Faculty of Science > Research Groups > Computational Biology Faculty of Science > Research Centres > Centre for Ecology, Evolution and Conservation Faculty of Science > Research Groups > Organisms and the Environment
Depositing User:	Christopher Greenman
Date Deposited:	22 Jun 2011 11:08
Last Modified:	12 Sep 2024 12:30
URI:	https://ueaeprints.uea.ac.uk/id/eprint/30593
DOI:	10.1038/ng.367

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