An elusive gene which causes Thrombocytopenia with Absent Radii (TAR) has been discovered by scientists.
It means that experts will soon be able to provide better antenatal diagnosis for sufferers of the rare blood and skeletal disorder.
The discovery came during a collaborative study by the NHS Blood and Transplant platelet research team, based at the University of Cambridge, and Dr Cedric Ghevaert and Professor Willem Ouwehand at the Wellcome Trust Sanger Institute.
Using genetic sequencing, the researchers found that TAR is a result of low levels of protein Y14.
"Without the use of modern genomics technologies, the discovery of this unexpected mechanism of disease inheritance would have been much more difficult. To achieve our latest findings, we deciphered about 40 million letters of genetic code in five patients," explained Dr Cornelis Albers, from the Sanger Institute and the University of Cambridge.
Previously, scientists had found that most people with TAR had a deletion in one copy of chromosome 1, however, it was also believed that other factors were involved, as some parents who had the same issue did not suffer from the disorder.
It was then discovered through the sequencing of genomes that the vast majority had one of two variants of the RBM8A gene. The conclusion was drawn that when a child co-inherits the genetic deletion and a variant of RBM8A then TAR would occur.
"We have shed some light on how some inherited disorders can present with such striking features associating seemingly unconnected characteristics such as skeletal and blood defects," added Dr Cedric Ghevaert, from the University of Cambridge.
TAR was first described in the 1950s, and can include abnormalities in the gastrointestinal, skeletal, hematologic and cardiac systems.
"The discovery of the gene for TAR will make it simpler to diagnose more accurately future cases with a simple DNA test," Dr Ruth Newbury-Ecob, from the University of Bristol Hospitals, went on to say.