A rare genetic defect is responsible for severe lung disease in some infants, British and Dutch researchers have discovered.
The disease is known as lung disease immunodeficiency chromosome breakage syndrome, the researchers have announced.
Families carrying the genetic variant behind the disease have been found in the Netherlands and in the USA. Both families lost two infants to the condition.
The discovery has been announced in the Journal of Clinical Investigation.
It involved the genome damage and stability centre at Sussex University, the University Medical Centre, of Utrecht, Netherlands, and Baylor College of Medicine, Houston, USA.
The research links the condition to the gene NSMCE3 and to defects in the levels of Smc5/6 proteins, which are needed for the copying and repair of DNA.
Researcher Dr Jo Murray, from Sussex, said: “This international study shows that collaboration between clinicians and research scientists is key to understanding what is going on in the cells and 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.”
Dr Gijs van Haaften, from Utrecht, 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.”
Destabilized SMC5-6 complex leads to chromosome breakage syndrome with severe lung disease JCI 18 July 2016 [abstract]
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