New Delhi, April 8 || UK researchers have found that one in 3,000 people could be carrying a defective gene that significantly raises their risk of having a punctured lung.
Punctured lung -- known as pneumothorax -- is caused by an air leak in the lung, resulting in painful lung deflation and shortness of breath.
In a study, encompassing more than 550,000 people, researchers from the University of Cambridge discovered that between one in 2,710 and one in 4,190 individuals carry a particular variant of gene FLCN that raises the risk of Birt-Hogg-Dube syndrome.
Birt-Hogg-Dube syndrome is a rare, inherited disorder characterised by benign skin tumours, lung cysts, and an increased risk of kidney cancer. However, not every case of punctured lung is caused by a fault in the FLCN gene.
The study, published in the journal Thorax, showed that patients with a diagnosis of Birt-Hogg-Dube syndrome showed a lifetime risk of punctured lung of 37 per cent. However, in the wider cohort of carriers of the genetic mutation in FLCN gene, this was lower at 28 per cent.
More strikingly, while patients with Birt-Hogg-Dube syndrome have 32 per cent of developing kidney cancer, in the wider cohort this was only 1 per cent.