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Autism: Variations in Number of Genes Characterize Genome

No. 37 | 10/06/2010 | by (Sab/Koh)

The genetic material of autism patients often shows a number of rare genetic alterations. Many genes have variations in the number of copies – they are multiplied or deleted. Several of the affected genes also play a role in other psychiatric developmental disorders. These results have been published by an international research consortium in the latest issue of the science journal Nature. In Germany, scientists of the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) and Goethe University in Frankfurt/Main are participating in the project.


The “Autism Genome Project” is a consortium of 120 scientists from more than 60 research institutes in 11 countries who have been investigating the genetic causes of autism since 2003. The two participating research groups in Germany are headed by Associate Professor (PD) Dr. Sabine Klauck of the German Cancer Research Center and Professor Dr. Christine Freitag of Frankfurt University.

For their recent study, the researchers investigated the genetic material of 1,000 study subjects with an autistic disorder in search of specific genetic alterations called copy number variants. For comparison, they analyzed the genomes of 1,300 control subjects. In those affected, they more often found genomic regions to be duplicated or deleted. The consortium has published these new results in the latest issue of Nature. Some of those affected have inherited this alteration from their parents; however, it can also occur spontaneously.

In people with autism, gene duplication or deletion is found particularly in those genes which play a role in cell growth and neural networking. “We have found particularly many copy number variations in genes which are crucial both for the development of autism and mental impairments. This underlines the hypothesis that there are common genetic risk factors for various psychiatric developmental disorders,” said Sabine Klauck.

The results show that autism is caused by a number of rare genetic alterations, each of which affects less than one percent of the population. Christine Freitag outlines the relevance of this study: “Close investigation of the newly found genetic alterations will help us gain a better understanding of how autism develops and, possibly, find targets for therapies.”

Autism patients often inherit the disorder from their parents and typically show communication deficits, impaired social skills and stereotyped behavioral patterns. The spectrum of cognitive development ranges from above-average intelligence through to mental retardation. The condition occurs in varying degrees of severity. Therefore, the medical term “autism spectrum disorders” refers to a whole group of functional disorders with similar characteristics. It includes infantile autism, Asperger’s Syndrome and atypical autism. About one percent of the population is affected by such a disorder.

The German partners in the “Autism Genome Project” ( have been supported by funds from the German Research Association (Deutsche Forschungsgemeinschaft) and the European Union.

A picture for this press release is available on the Internet at:
Picture source: German Cancer Research Center / Yan De Andres

D. Pinto et al : Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010, DOI: 10.1038/nature09146

With more than 3,000 employees, the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) is Germany’s largest biomedical research institute. DKFZ scientists identify cancer risk factors, investigate how cancer progresses and develop new cancer prevention strategies. They are also developing new methods to diagnose tumors more precisely and treat cancer patients more successfully. The DKFZ's Cancer Information Service (KID) provides patients, interested citizens and experts with individual answers to questions relating to cancer.

To transfer promising approaches from cancer research to the clinic and thus improve the prognosis of cancer patients, the DKFZ cooperates with excellent research institutions and university hospitals throughout Germany:

  • National Center for Tumor Diseases (NCT, 6 sites)
  • German Cancer Consortium (DKTK, 8 sites)
  • Hopp Children's Cancer Center (KiTZ) Heidelberg
  • Helmholtz Institute for Translational Oncology (HI-TRON Mainz) - A Helmholtz Institute of the DKFZ
  • DKFZ-Hector Cancer Institute at the University Medical Center Mannheim
  • National Cancer Prevention Center (jointly with German Cancer Aid)
The DKFZ is 90 percent financed by the Federal Ministry of Education and Research and 10 percent by the state of Baden-Württemberg. The DKFZ is a member of the Helmholtz Association of German Research Centers.


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