2. Academic Validation
  3. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

  • Nat Genet. 2010 Jun;42(6):489-91. doi: 10.1038/ng.589.
Simone Berkel 1,  Christian R Marshall,  Birgit Weiss,  Jennifer Howe,  Ralph Roeth,  Ute Moog,  Volker Endris,  Wendy Roberts,  Peter Szatmari,  Dalila Pinto,  Michael Bonin,  Angelika Riess,  Hartmut Engels,  Rolf Sprengel,  Stephen W Scherer,  Gudrun A Rappold
Affiliations

Affiliation

  • 1 Department of Molecular Human Genetics, Ruprecht-Karls-University, Heidelberg, Germany.
PMID: 20473310 DOI: 10.1038/ng.589
Abstract

Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. Our findings further link common genes between ASD and intellectual disability.

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