2006
DOI: 10.1038/sj.mp.4001896
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The genetics of autistic disorders and its clinical relevance: a review of the literature

Abstract: Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis, which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular genetic studies will be presented in detail, and the possibly involved aetiopathological pathways will be described. Implications of the different genetic fi… Show more

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Cited by 552 publications
(424 citation statements)
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References 267 publications
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“…84,136 Candidate genes derived from association or familial linkage studies include multiple genes relevant to synaptic genesis and function, including GABRB3, GLRB (glycine receptor, b), several genes encoding glutamate receptors, and NLGN3 and NLGN4 (neuroligin 3 and 4). 11,137,138 The neuroligin family, in particular, has been found to have an important role in excitatory and inhibitory synaptic contacts. 139,140 Neuroligins, located in the postsynaptic region, function as transsynaptic cell adhesion molecules, connecting with presynaptic b-neurexin or, in some cases, a-neurexin partners.…”
Section: Autism Candidate Genes and Synaptic Functionmentioning
confidence: 99%
“…84,136 Candidate genes derived from association or familial linkage studies include multiple genes relevant to synaptic genesis and function, including GABRB3, GLRB (glycine receptor, b), several genes encoding glutamate receptors, and NLGN3 and NLGN4 (neuroligin 3 and 4). 11,137,138 The neuroligin family, in particular, has been found to have an important role in excitatory and inhibitory synaptic contacts. 139,140 Neuroligins, located in the postsynaptic region, function as transsynaptic cell adhesion molecules, connecting with presynaptic b-neurexin or, in some cases, a-neurexin partners.…”
Section: Autism Candidate Genes and Synaptic Functionmentioning
confidence: 99%
“…[7][8][9][10] However, all known genetic variations can only account for 10-20% of the ASD patients. 11 Several hypotheses have been proposed to explain the causes of ASD.…”
Section: Introductionmentioning
confidence: 99%
“…Though much attention has been devoted to the genetics of ASD in the 30 years following initial twin studies, a clear genetic etiology has not emerged; heritability is inferred to be complex, with multiple genes involved in assumedly diverse genetic pathways culminating in the disorder (Risch et al, 1999). Despite the lack of a clear or universal genetic mechanism, research has revealed specific genetic causes for isolated cases as well as a number of candidate genes and chromosomal regions indicated as relevant across multiple studies, including 2q, 7q, 15q, 17q, 11 (Freitag, 2007;Szatmari et al, 2007;Gupta and State, 2007).…”
Section: Genetic and Environmental Factorsmentioning
confidence: 99%