Genetics of autistic disorders: review and clinical implications.
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy number variations in AD. An extensive literature search in the PubMed database was performed to obtain English published articles on genetic findings in autism. Results of linkage, (genome wide) association and cytogenetic studies are presented, and putative aetiopathological pathways are discussed. Implications of the different genetic findings for genetic counselling and genetic testing at present will be described. The article ends with a prospectus on future directions.
Freitag
Christine M
CM
Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Johann Wolfgang Goethe-University, Deutschordenstrasse 50, Frankfurt am Main, Germany. C.Freitag@em.uni-frankfurt.de
Staal
Wouter
W
Klauck
Sabine M
SM
Duketis
Eftichia
E
Waltes
Regina
R
D000293:Adolescent; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D002874:Chromosome Mapping; D020732:Cytogenetic Analysis; D056915:DNA Copy Number Variations / Q000502:physiology; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000235:genetics*; D005817:Genetic Counseling; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study; D006801:Humans
D005819:Genetic Markers