Fragile X syndrome is the second most common genetic intellectual disability after trisomy 21 but the most common inherited genetic condition. It is caused by a gene mutation on the FMR1 gene on the X chromosome. Both boys and girls can be affected by this condition, but because boys have only one X chromosome they tend to be affected more severely.
Boys that have the full mutation have moderate mental retardation. They tend to have a particular facial appearance with a large head, a long face, and a prominent forehead. They also tend to have overly loose ligaments. Affected boys also have marked behavioral problems such as hyperactivity, temper tantrums, and autistic characteristics.
Girls who have the full gene mutation suffer from mild mental disability. Fragile X can also cause premature menopause in females and difficulty in conceiving children.
Care and educational management are essential to the patient’s wellbeing and future.
Though there is still no curative treatment, there is an active research community involved in bringing drugs to clinical trial. Those interested in following the progress of research on fragile X syndrome should folllow the Fragile X Research Foundation for regular updates on activities.
Dr. Randi Haggerman, Jérôme Lejeune Foundation USA Scientific Advisory Board member, is one of the principal researchers in Fragile X in the U.S. and the recipient of the 2014 Sisley-Jerome Lejeune Prize. She is the Director of the Fragile X Research and Treatment Center at the MIND Institute at the University of California, Davis. Please visit http://www.ucdmc.ucdavis.edu/mindinstitute/research/fragilex/index.html for information and resources.