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

Tarpey PS | Smith R | Pleasance E | Whibley A | Edkins S | Hardy C | O'Meara S | Latimer C | Dicks E | Menzies A | Stephens P | Blow M | Greenman C | Xue Y | Tyler-Smith C | Thompson D | Gray K | Andrews J | Barthorpe S | Buck G | Cole J | Dunmore R | Jones D | Maddison M | Mironenko T | Turner R | Turrell K | Varian J | West S | Widaa S | Wray P | Teague J | Butler A | Jenkinson A | Jia M | Richardson D | Shepherd R | Wooster R | Tejada MI | Martinez F | Carvill G | Goliath R | de Brouwer AP | van Bokhoven H | Van Esch H | Chelly J | Raynaud M | Ropers HH | Abidi FE | Srivastava AK | Cox J | Luo Y | Mallya U | Moon J | Parnau J | Mohammed S | Tolmie JL | Shoubridge C | Corbett M | Gardner A | Haan E | Rujirabanjerd S | Shaw M | Vandeleur L | Fullston T | Easton DF | Boyle J | Partington M | Hackett A | Field M | Skinner C | Stevenson RE | Bobrow M | Turner G | Schwartz CE | Gecz J | Raymond FL | Futreal PA | Stratton MR
Nature genetics | Jun 29, 2009

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.

Pubmed ID: 19377476 RIS Download

Mesh terms: Chromosome Mapping | Chromosomes, Human, X | Exons | Female | Genetic Variation | Humans | Male | Mental Retardation, X-Linked | Pedigree | Sequence Analysis, DNA

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Associated grants

  • Agency: NICHD NIH HHS, Id: R01 HD026202
  • Agency: NICHD NIH HHS, Id: HD26202
  • Agency: Wellcome Trust, Id: 077012
  • Agency: Cancer Research UK, Id: 10118
  • Agency: Wellcome Trust, Id:

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