Next-generation sequencing technology identifies previously unknown TRAPPC6A gene
Researchers have identified a new gene that is responsible for a rare genetic syndrome which leads to learning disability, speech impairment and abnormal development, together with skeletal abnormalities including extra fingers and toes.
Using next-generation sequencing technology, the researchers were able to identify the previously unknown TRAPPC6A gene, which when mutated has an unusual and toxic effect on cells, leading to both abnormal brain development and physical abnormalities.
The study, published today in Scientific Reports, was led by Jamal Nasir at the University of Central Lancashire (UCLan) in collaboration with St George’s University of London and King Abdulaziz University Hospital in Saudi Arabia.
The findings suggest a new link between the development of the brain and physical features, which may have wider implications for our understanding of a range of other developmental and learning disorders, and genetic conditions in general.
The unusual nature of the mutation may also lend itself to effective screening of rare genetic developmental conditions and the hope is that researchers will then be able to develop new therapies which block its effects.
These findings are particularly exciting since they will help with our understanding of human development, brain function and the incidence of physical deformities at a young age.
Jamal Nasir, Senior Lecturer in Molecular Cell Biology at UCLan, said: “We have discovered a new link between the process of brain development and the way in which the skeleton forms in the womb – two processes that were previously thought to be separate. These findings are particularly exciting since they will help with our understanding of human development, brain function and the incidence of physical deformities at a young age.
“The use of new genetic technology has enabled us to carry out even more in-depth analysis of these rare genetic disorders, resulting in the identification of a novel gene and further avenues from which to research potential new therapies. The next step will be to investigate the exact ways in which this mutation causes these symptoms and how the effects may be blocked in order to prevent the development of these rare diseases.”