Researchers discovered a new, unusual condition by analyzing the DNA of people born with a variety of birth defects, including extra fingers and toes. This discovery paves the way for better diagnosis and treatment.
The findings were revealed in a study of three children who had an unusual combination of traits. They include polydactyly (additional fingers and/or toes), a larger-than-average head size, and delayed eye development.
These characteristics showed that the young patients may have had the same illness, while the cause was unknown. Researchers began studying their DNA, which found that all three had the same mutation in a gene called MAX. It is a gene that encodes a protein called a transcription factor, which is responsible for transcribing DNA into RNA.
Co-lead, Dr James Poulter, explained,
Other patients with a similar combination of features can be tested to see if they have the same variant we have identified in our study.
Poulter added
Currently there are no treatments for these patients. This means that our research into rare conditions is not only important to help us understand them better, but also to identify potential ways to treat them.”
The study was deemed successful in that aspect. The researchers discovered a chemical that could be used to prevent the condition from deteriorating and treat its neurological symptoms, but further research is needed before it can be approved as a medication. It is advantageous that it is already in clinical trials for another illness.
The author added,
meaning we could fast track this for these patients if our research finds the drug reverses some of the effects of the mutation,
