Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders.
Durand
Christelle M
CM
Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Betancur
Catalina
C
Boeckers
Tobias M
TM
Bockmann
Juergen
J
Chaste
Pauline
P
Fauchereau
Fabien
F
Nygren
Gudrun
G
Rastam
Maria
M
Gillberg
I Carina
IC
Anckarsäter
Henrik
H
Sponheim
Eili
E
Goubran-Botros
Hany
H
Delorme
Richard
R
Chabane
Nadia
N
Mouren-Simeoni
Marie-Christine
MC
de Mas
Philippe
P
Bieth
Eric
E
Rogé
Bernadette
B
Héron
Delphine
D
Burglen
Lydie
L
Gillberg
Christopher
C
Leboyer
Marion
M
Bourgeron
Thomas
T
D001321:Autistic Disorder / Q000235:genetics*; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins; D010375:Pedigree
D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human