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Journal Articles Nature Genetics Year : 2007

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

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Lili Senman
  • Function : Author
Marion Leboyer
Janet Miller
  • Function : Author
Gillian Baird
  • Function : Author
Fred Volkmar
  • Function : Author
Andy Shih
  • Function : Author

Abstract

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
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Dates and versions

inserm-00937094 , version 1 (27-01-2014)

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Peter Szatmari, Andrew D. Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, et al.. Mapping autism risk loci using genetic linkage and chromosomal rearrangements.. Nature Genetics, 2007, 39 (3), pp.319-28. ⟨10.1038/ng1985⟩. ⟨inserm-00937094⟩
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