Editor's Choice Academic Journal Main Category: Autism Also Included In: Genetics Article Date: 16 Jan 2013 - 12:00 PST

Current ratings for: New Gene Variants Linked To Autism Discovered

2 (1 votes)

The research team, led by Hakon Hakonarson, MD, PhD, explained in the journal PLOS ONE that they identified 25 additional copy number variants (CNVs) that occur in some people with autism. CNVs are duplicate or missing stretches of DNA.

They describe these copy number variants as individually rare, but of "high impact", meaning that each one has a strong effect in increasing a person's risk for autism.

Dr. Hakonarson said:

Scientists from the Seaver Autism Center at Icahn School of Medicine at Mount Sinai said that there are hundreds of mutated genes linked to ASDs.

In this study, the team initially analyzed the DNA of 55 people from families in Utah with multiple members who had been diagnosed with ASDs. The data from high-risk families had been collected by Mark Leppert, PhD. They identified 153 CNVs as potentially linked to autism.

The team wanted to look at these CNVs in a broader ASD population. They custom-designed a DNA array with probes for all 153 CNVs, as well as an additional 185 CNVs which had been linked to autism in previous studies. They gathered and examined all the data to determine how common all the CNVs were in 3,000 people with an ASD and 6,000 control subjects previously gathered in studies carried out at The Children's Hospital of Philadelphia.

The researchers found that:

Read the original:
New Gene Variants Linked To Autism Discovered

Comments are closed.