CNVs in Contactin 4 and 2.5 percent of Autism
http://news.aol.com/story/_a/gene-for-brain-connections-linked-with/n20080318150209990016
Gene for brain connections linked with autism
By Maggie Fox,
Reuters
Posted: 2008-03-18 15:02:04
WASHINGTON (Reuters) - A gene that helps the brain make connections may underlie a significant number of autism cases, researchers in the United States reported on Tuesday.Disruptions in the gene, called contactin 4, stop the gene from working properly and appear to stop the brain from making proper networks, the researchers reported in the Journal of Medical Genetics.These disruptions, in which the child has either three copies of the gene or just one copy when two copies is normal, could account for up to 2.5 percent of autism cases, said Dr. Eli Hatchwell of Stony Brook University Medical Center in New York, who led the study."That is a significant number," said Hatchwell.
Generally the mistake that people make is they are looking for one unifying cause for autism, and there is no such thing and there never will be," Hatchwell said in a telephone interview.
Hatchwell's team tested 92 patients from 81 families with autism spectrum disorder and compared them to 560 people without autism.They did a whole genome analysis, looking at the entire DNA map, and found three of the patients had deletions or duplications of DNA that disrupted contactin 4.They were all inherited from fathers without a history of autism, which can cause severe social and developmental delays and even mental retardation.
Gene for brain connections linked with autism
By Maggie Fox,
Reuters
Posted: 2008-03-18 15:02:04
WASHINGTON (Reuters) - A gene that helps the brain make connections may underlie a significant number of autism cases, researchers in the United States reported on Tuesday.Disruptions in the gene, called contactin 4, stop the gene from working properly and appear to stop the brain from making proper networks, the researchers reported in the Journal of Medical Genetics.These disruptions, in which the child has either three copies of the gene or just one copy when two copies is normal, could account for up to 2.5 percent of autism cases, said Dr. Eli Hatchwell of Stony Brook University Medical Center in New York, who led the study."That is a significant number," said Hatchwell.
Generally the mistake that people make is they are looking for one unifying cause for autism, and there is no such thing and there never will be," Hatchwell said in a telephone interview.
Hatchwell's team tested 92 patients from 81 families with autism spectrum disorder and compared them to 560 people without autism.They did a whole genome analysis, looking at the entire DNA map, and found three of the patients had deletions or duplications of DNA that disrupted contactin 4.They were all inherited from fathers without a history of autism, which can cause severe social and developmental delays and even mental retardation.
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