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Autism
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Chromosomal Anomalies in Individuals with Autism

A Strategy towards the Identification of Genes Involved in Autism

Dries Castermans

University of Leuven, Belgium

Valérie Wilquet

University of Leuven, Belgium

Jean Steyaert

University of Leuven, Belgium

Wim van de Ven

University of Leuven, Belgium

Jean-Pierre Fryns

University of Leuven, Belgium

Koen Devriendt

University of Leuven, Belgium, koenraad.devriendt{at}uz.kuleuven.ac.be

We review the different strategies currently used to try to identify susceptibility genes for idiopathic autism. Although identification of genes is usually straightforward in Mendelian disorders, it has proved to be much more difficult to establish in polygenic disorders like autism. Neither genome screens of affected siblings nor the large number of association studies using candidate genes have resulted in finding autism susceptibility genes. We focus on the alternative approach of ‘positional cloning’ through chromosomal aberrations in individuals with autism. In particular, balanced aberrations such as reciprocal translocations or inversions offer a unique opportunity, since only the genes in the breakpoint regions are candidate genes. This approach, in combination with others, is likely to produce results in the coming years.

Key Words: autism • chromosomal aberrations • polygenic disorders • susceptibility genes

Autism, Vol. 8, No. 2, 141-161 (2004)
DOI: 10.1177/1362361304042719
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