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

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

Authors

  • 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

Journal

Nature genetics

Publication Data

May 28, 2009

Associated Grants

  • Agency: Wellcome Trust, Id: 077012
  • Agency: Cancer Research UK, Id: 10118
  • Agency: Cancer Research UK, Id: 11022
  • Agency: NICHD NIH HHS, Id: HD26202
  • Agency: Wellcome Trust, Id:

Mesh Terms

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