5 August 2016
New insights into the underlying cause of childhood heart disease have been revealed by one of the largest international genetic studies of congenital heart disease (CHD) yet conducted.
Led by the Wellcome Trust Sanger Institute in partnership with international collaborators, the research involved the sequencing and analysis of protein-coding segments of the genomes of 1,900 CHD patients and their parents.
Around 90 per cent of CHD patients have isolated defects of the heart and are called non-syndromic, while the remainder of syndromic patients have additional developmental problems, including abnormalities in other organs or intellectual disabilities.
Previously, it was thought that both forms of the disease might be caused by spontaneous mutations present in the child and not the parents, but this study confirmed that non-syndromic CHD patients did not have such mutations.
For the first time, this conclusively proves that these patients often inherit damaging gene variants from seemingly healthy parents, and could help doctors advise parents on their chances of having a second child with the disease.
Dr Mathew Hurles, lead author from the Wellcome Trust Sanger Institute, said: "This is the first study to quantify the role that rare inherited variants play in non-syndromic CHD, and is extremely valuable as these patients make up 90 per cent of CHD patients worldwide."
Posted by Jeanette Royston
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