A RARE inherited condition which can lead to infant death through severe lung disease has been discovered by scientists.

A team from the University of Sussex is among an international group of researchers who have identify lung disease immunodeficiency chromosome breakage syndrome’ (LICS).

The study came about after Jo Murray, from the university’s genome damage and stability centre began working with a team Netherlands to look at two baby girls from the same family who had both died from lung problems.

Both children had unstable chromosomes and also had difficulties preventing their bodies from fighting infection.

Defects in a gene called NSMCE3 were thought to have caused the disease in both the Dutch children.

By using a new online genetic ‘matching’ service called GeneMatcher the Sussex and the Netherlands researchers were able to team-up with a university in the US who were also studying the same NSMCE3 gene in an American family.

The US family had also sadly lost two children to lung failure in early childhood and had mutations in the same gene.

The researchers discovered the problem in the children’s cells was caused specifically by a defect in the levels of a vital group of proteins needed for accurate copying and repair of DNA.

Dr Murray said: “This international study shows that collaboration between clinicians and research scientists is key to understanding what is going on in the cells and to the development of diagnostics tools.

“The mutation we’ve discovered in the NSMCE3 gene is rare but mutations in related genes could lead to similar tragic outcomes – which is why it is so important that we now work to develop a clinical test that can be used to identify families at risk.”

Gijs van Haaften, associate professor of genetics and leader of the group in Utrecht, the Netherlands said: “Now we can provide a scientific explanation to the families, hopefully improve diagnostic opportunities for future children with a similar disease and understand more of the function of the DNA repair complex in the human body in health and disease.”

The study was recently published in the Journal of Clinical Investigation.