LONDON: A team of researchers from the University of Leeds, UK, has identified a rare disorder responsible for causing babies to be born with additional fingers and toes, along with a range of birth defects. The yet-to-be-named disorder is attributed to a genetic mutation in the MAX gene, leading to polydactyly (extra digits) and associated symptoms related to ongoing brain growth, such as autism.
This groundbreaking research marks the first time the genetic link to this disorder has been identified. The study also identified a molecule that holds potential for treating some neurological symptoms associated with the disorder, preventing further deterioration of the condition. However, further research is necessary to validate the efficacy of this molecule before it can be considered a viable treatment.
Published in The American Journal of Human Genetics, the study focused on three persons with a rare combination of physical traits, including polydactyly and an unusually large head circumference known as macrocephaly. The persons also shared other characteristics, such as delayed eye development leading to early vision problems.
Researchers Identify Shared Genetic Mutation
Through DNA analysis, the researchers identified a shared genetic mutation causing the birth defects in these persons. Dr. James Poulter from the University of Leeds emphasized the significance of this research, stating, “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 team discovered a drug already in clinical trials for another disorder that could potentially be fast-tracked for these patients if proven effective in reversing some effects of the identified mutation. The researchers underscored the importance of interdisciplinary research into rare diseases, providing understanding and hope for treatment to families facing uncertainty about their child’s condition.
The researchers plan to expand their study by identifying additional patients with mutations in the MAX gene to deepen their understanding of the disorder and assess the potential treatment’s impact on symptoms caused by the mutation.
