Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
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.
Berkel
Simone
S
Department of Molecular Human Genetics, Ruprecht-Karls-University, Heidelberg, Germany.
Marshall
Christian R
CR
Weiss
Birgit
B
Howe
Jennifer
J
Roeth
Ralph
R
Moog
Ute
U
Endris
Volker
V
Roberts
Wendy
W
Szatmari
Peter
P
Pinto
Dalila
D
Bonin
Michael
M
Riess
Angelika
A
Engels
Hartmut
H
Sprengel
Rolf
R
Scherer
Stephen W
SW
Rappold
Gudrun A
GA
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*
D009419:Nerve Tissue Proteins; C122162:SHANK2 protein, human
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