An international group of scientists including DZHK investigators from Kiel and the Competence Network for Congenital Heart Defects have identified three new genes that contribute to the development of congenital heart defects. They report their findings in Nature Genetics.
The findings relate to syndromic heart defects – heart defects which are accompanied by malformations of other parts of the body. The three recently identified gene mutations are not inherited from the parents, but rather are newly arising mutations. This result is illustrative of an important finding of the study: in most syndromic heart defects, the parents are not carriers of the pathogenic mutation. The situation is different for heart defects which are not associated with additional disease characteristics – so-called non-syndromic heart defects. They make up roughly 90 per cent of all heart defects. The study shows that those defects are far more often hereditary than previously thought.
For their study, the researchers examined in total more than 4,000 individuals – affected children and their parents – using a technology known as exome sequencing. Here, only the DNA region that contains the building plans for proteins in the body, the so-called exome, is studied.
The results of the study will help improve genetic counselling for affected families.