TY - JOUR
T1 - Multiple rare variants in the etiology of autism spectrum disorders
AU - Buxbaum, Joseph D.
PY - 2009
Y1 - 2009
N2 - Recent studies in autism spectrum disorders (ASDs) support an important role for multiple rare variants in these conditions. This is a clinically important finding, as, with the demonstration that a significant proportion of ASDs are the result of rare, etiological genetic variants, it becomes possible to make use of genetic testing to supplement behavioral analyses for an earlier diagnosis, As it appears that earlier interventions in ASDs will produce better outcomes, the development of genetic testing to augment behaviorally based evaluations in ASDs holds promise for improved treatment. Furthermore, these rare variants involve synaptic and neuronal genes that implicate specific pathways, cells, and subcellular compartments in ASDs, which in turn will suggest novel therapeutic approaches in ASDs. Of particular recent interest are the synaptic cell adhesion and associated molecules, including neurexin 1, neuroligin 3 and 4, and SHANK3, which implicate glutamatergic synapse abnormalities in ASDs. In the current review we will overview the evidence for a genetic etiology for ASDs, and summarize recent genetic findings in these disorders.
AB - Recent studies in autism spectrum disorders (ASDs) support an important role for multiple rare variants in these conditions. This is a clinically important finding, as, with the demonstration that a significant proportion of ASDs are the result of rare, etiological genetic variants, it becomes possible to make use of genetic testing to supplement behavioral analyses for an earlier diagnosis, As it appears that earlier interventions in ASDs will produce better outcomes, the development of genetic testing to augment behaviorally based evaluations in ASDs holds promise for improved treatment. Furthermore, these rare variants involve synaptic and neuronal genes that implicate specific pathways, cells, and subcellular compartments in ASDs, which in turn will suggest novel therapeutic approaches in ASDs. Of particular recent interest are the synaptic cell adhesion and associated molecules, including neurexin 1, neuroligin 3 and 4, and SHANK3, which implicate glutamatergic synapse abnormalities in ASDs. In the current review we will overview the evidence for a genetic etiology for ASDs, and summarize recent genetic findings in these disorders.
KW - Association
KW - Autism spectrum disorder
KW - Genetics
KW - Pervasive developmental disoder
KW - Susceptibility locus
UR - http://www.scopus.com/inward/record.url?scp=65249120231&partnerID=8YFLogxK
U2 - 10.31887/dcns.2009.11.1/jdbuxbaum
DO - 10.31887/dcns.2009.11.1/jdbuxbaum
M3 - Review article
C2 - 19432386
AN - SCOPUS:65249120231
SN - 1294-8322
VL - 11
SP - 35
EP - 43
JO - Dialogues in Clinical Neuroscience
JF - Dialogues in Clinical Neuroscience
IS - 1
ER -