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Researchers identify genetic mutation linked to congenital heart disease
Date:7/29/2013

A mutation in a gene crucial to normal heart development could play a role in some types of congenital heart diseasethe most common birth defect in the U.S. The finding, from a team in The Research Institute at Nationwide Children's Hospital, could help narrow the search for genes that contribute to this defect, which affects as many as 40,000 newborns a year. The findings were published in a recent issue of in Human Mutation.

Several hundred genes have been implicated in the formation of the heart, and a mutation in any of them could potentially contribute to a cardiac defect. Identifying which of these genes is involved in human congenital heart disease has been a challenge for scientists in the field, says Vidu Garg, MD, senior author of the new study, principal investigator in the Center for Cardiovascular and Pulmonary Research and director of Translational Research in The Heart Center at Nationwide Children's.

"We have to ask ourselves, what subset of the more than 20,000 genes that make up the human genome are contributing to congenital heart disease?" he says. "Right now, we don't know enough about a lot of those genes, so this study provides another piece of the puzzle."

That piece is FOXP1, a member of a large gene family that helps regulate tissues throughout the body, including in the heart, lungs and brain. A few studies on FOXP1 had described its function and role in cardiac development in animal models, but it wasn't until a former colleague called with an interesting case that Dr. Garg decided the gene was worth a closer look.

While analyzing a DNA sample from an 8-month-old infant who died from complications of complex congenital heart disease, Linda Baker, MD, at the University of Texas Southwestern Medical Center, had found a rare genetic abnormalitya small chromosomal deletionin the patient's FOXP1 gene.

A search of DNA samples from patients with congenital heart disease in a repository
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Contact: Gina Bericchia
Gina.Bericchia@NationwideChildrens.org
614-355-0495
Nationwide Children's Hospital
Source:Eurekalert

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