title: Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
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.
authors.affiliation: Department of Molecular Human Genetics, Ruprecht-Karls-University, Heidelberg, Germany.
authors.forename: Simone
authors.initials: S
authors.lastname: Berkel
authors.forename: Christian R
authors.initials: CR
authors.lastname: Marshall
authors.forename: Birgit
authors.initials: B
authors.lastname: Weiss
authors.forename: Jennifer
authors.initials: J
authors.lastname: Howe
authors.forename: Ralph
authors.initials: R
authors.lastname: Roeth
authors.forename: Ute
authors.initials: U
authors.lastname: Moog
authors.forename: Volker
authors.initials: V
authors.lastname: Endris
authors.forename: Wendy
authors.initials: W
authors.lastname: Roberts
authors.forename: Peter
authors.initials: P
authors.lastname: Szatmari
authors.forename: Dalila
authors.initials: D
authors.lastname: Pinto
authors.forename: Michael
authors.initials: M
authors.lastname: Bonin
authors.forename: Angelika
authors.initials: A
authors.lastname: Riess
authors.forename: Hartmut
authors.initials: H
authors.lastname: Engels
authors.forename: Rolf
authors.initials: R
authors.lastname: Sprengel
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Gudrun A
authors.initials: GA
authors.lastname: Rappold
mesh_terms: D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; C122162:SHANK2 protein, human
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