Hole in the heart gene found

An international team have tracked down a gene fault responsible for the heart defect known as a "hole in the heart"
12 June 2013


An international team led by researchers at the Universities of Manchester and Newcastle have tracked down a gene fault linked to a type of heart defect in newborn babies known as "a hole in the heart". Writing in the journal Nature Genetics, the researchers scanned through 500,000 genetic variations in more than 2,000 patients born with congenital heart defects, and compared them with the same variations in more than 5,000 healthy people. They discovered that a particular variation near a gene called Msx1 was found in  around ten per cent of people born with a hole in the heart - a condition known as an atrial septal defect, which is one of the most common forms of congenital heart disease. It's not exactly clear whether Msx1 itself is responsible, but the team are now trying to figure that out.


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