Multinational team identifies genetic variants associated with congenital heart disease


CHD, short for congenital heart disease, is the most common type of birth defect, affecting 1 out of every 100 live births. The symptoms of CHD vary considerably. Some people display no symptoms. But for many people, the disease is fatal. The genetic basis and pathogenesis of this disorder have remained largely unknown. So, it is impossible to predict which parents are likely to give birth to a baby with CHD.

Now a multinational team has identified novel genetic variants associated with CHD by analyzing genetic data of CHD patients and their patients. The newly identified mutations would not only facilitate understanding the mechanism of CHD but also accelerate development of innovative treatments. The study (Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands) is described online in the Nature Genetics.

The work is carried out by Yale University, Harvard Medical School, Columbia University, University of California San Francisco, University of Michigan, University of Rochester Medical Center, University of Toronto, University College London School of Pharmacy, and several other related research institutions.

In order to identify genetic variants associated with CHD, the team analyzed exome sequencing data of a large number of CHD patients and their patients. The analyses revealed both hereditary mutations, which are mutations inherited from a parent, and de novo mutations, which refer to mutations that are present in a child but absent from both parents.

The CHD-related hereditary mutations identified here include mutations in the genes FLT4, MYH6, and GDF1, which individually accounted for some cases of CHD. De novo mutations were found in a large number of genes, some of which had not been previously implicated in CHD. Importantly, many of the genes had been linked to autism.

Collectively, the study uncovers novel genetic variants that correlate with CHD, the No.1 cause of death from birth defects. These genetic variants would help us determine a parent's chance of giving birth to a baby with CHD, elucidate the pathogenesis of CHD, and discover innovative treatments.
 
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