DE NOVO AUTISM AND COPY NUMBER VARIATIONS

NEWS
Copy number linked to autism
Researchers find high rates of copy number mutations in non-heritable forms of autism


[Published 15th March 2007 05:54 PM GMT]


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Copy number variation could be an important factor in autism, according to a new study published in Science today (March 15).

NEWS
Copy number linked to autism
Researchers find high rates of copy number mutations in non-heritable forms of autism


[Published 15th March 2007 05:54 PM GMT]


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The Scientist

The largest percentage of copy number mutations occurred in families with one autistic child, the so-called sporadic, or spontaneously occurring cases -- not in families with multiple autistic children, indicating genetic inheritance.

Autism is widely recognized to be a genetic disorder, but this study focused on de novo genetic mutations (those present in the child but not the parents), rather than inherited mutations. "The majority of genetic studies to date have focused on the minority of families with multiple affected kids," study author Jonathan Sebat of Cold Spring Harbor Laboratory in New York told The Scientist. Until recently it hadn't been recognized that "the sporadic cases might be a rich source of genetic information," he said.


Autism is widely recognized to be a genetic disorder, but this study focused on de novo genetic mutations (those present in the child but not the parents), rather than inherited mutations. "The majority of genetic studies to date have focused on the minority of families with multiple affected kids," study author Jonathan Sebat of Cold Spring Harbor Laboratory in New York told The Scientist. Until recently it hadn't been recognized that "the sporadic cases might be a rich source of genetic information," he said.