TY - JOUR

T1 - Pathogenesis of autism

T2 - A patchwork of genetic causes

AU - Grigorenko, Elena L.

N1 - Funding Information: The work of V.V. Uzhinskii was supported in part by the Russian Foundation for Basic Research, project no. 00-01-00307.

PY - 2009

Y1 - 2009

N2 - Autism spectrum disorders (ASDs) are relatively infrequent but are devastating developmental conditions characterized by marked deficiencies in social, communicative and other behavioral domains. It has been known for a substantial period of time that these disorders are genetic in nature. However, elucidating the specific mechanisms of these disorders has been difficult. A major reason for such difficulty is the recognized genetic heterogeneity of ASDs. Specifically, many genetic mechanisms related to structural variations in the genome have been reported as possible genetic causes of these disorders. This review briefly exemplifies these genetic mechanisms, presents a concise overview of the evidence for the genetic basis of ASDs and provides an appraisal of the specific structural genetic variants thought to contribute to the pathogenesis of these complex disorders.

AB - Autism spectrum disorders (ASDs) are relatively infrequent but are devastating developmental conditions characterized by marked deficiencies in social, communicative and other behavioral domains. It has been known for a substantial period of time that these disorders are genetic in nature. However, elucidating the specific mechanisms of these disorders has been difficult. A major reason for such difficulty is the recognized genetic heterogeneity of ASDs. Specifically, many genetic mechanisms related to structural variations in the genome have been reported as possible genetic causes of these disorders. This review briefly exemplifies these genetic mechanisms, presents a concise overview of the evidence for the genetic basis of ASDs and provides an appraisal of the specific structural genetic variants thought to contribute to the pathogenesis of these complex disorders.

KW - Common genetic variants

KW - Copy number variation

KW - Familial risk

KW - Heritability

KW - Rare genetic variants

UR - http://www.scopus.com/inward/record.url?scp=75249094315&partnerID=8YFLogxK

U2 - 10.2217/fnl.09.29

DO - 10.2217/fnl.09.29

M3 - Review article

AN - SCOPUS:75249094315

VL - 4

SP - 591

EP - 599

JO - Future Neurology

JF - Future Neurology

SN - 1479-6708

IS - 5

ER -