Chromosomal Anomalies in Individuals with Autism: A Strategy Towards the Identification of Genes Involved in Autism

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Title: Chromosomal Anomalies in Individuals with Autism: A Strategy Towards the Identification of Genes Involved in Autism
Language: English
Authors: Castermans, Dries, Wilquet, Valerie, Steyaert, Jean
Source: Autism: The International Journal of Research and Practice. Jun 2004 8(2):141-161.
Availability: Sage Publications, 2455 Teller Road, Thousand Oaks, CA 91320. Tel: 800-818-7243 (Toll Free); Fax: 800-583-2665 (Toll Free).
Peer Reviewed: Y
Page Count: 21
Publication Date: 2004
Document Type: Journal Articles
Reports - Evaluative
Descriptors: Siblings, Autism, Genetics, Identification, Etiology
DOI: 10.1177/1362361304042719
ISSN: 1362-3613
Abstract: 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.
Abstractor: Author
Number of References: 108
Entry Date: 2005
Accession Number: EJ689772
Database: ERIC
FullText Text:
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  Data: Chromosomal Anomalies in Individuals with Autism: A Strategy Towards the Identification of Genes Involved in Autism
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  Data: <searchLink fieldCode="AR" term="%22Castermans%2C+Dries%22">Castermans, Dries</searchLink><br /><searchLink fieldCode="AR" term="%22Wilquet%2C+Valerie%22">Wilquet, Valerie</searchLink><br /><searchLink fieldCode="AR" term="%22Steyaert%2C+Jean%22">Steyaert, Jean</searchLink>
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  Data: <searchLink fieldCode="SO" term="%22Autism%3A+The+International+Journal+of+Research+and+Practice%22"><i>Autism: The International Journal of Research and Practice</i></searchLink>. Jun 2004 8(2):141-161.
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  Data: Sage Publications, 2455 Teller Road, Thousand Oaks, CA 91320. Tel: 800-818-7243 (Toll Free); Fax: 800-583-2665 (Toll Free).
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  Data: 21
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  Data: <searchLink fieldCode="DE" term="%22Siblings%22">Siblings</searchLink><br /><searchLink fieldCode="DE" term="%22Autism%22">Autism</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Identification%22">Identification</searchLink><br /><searchLink fieldCode="DE" term="%22Etiology%22">Etiology</searchLink>
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  Data: 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.
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      – TitleFull: Chromosomal Anomalies in Individuals with Autism: A Strategy Towards the Identification of Genes Involved in Autism
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