Like a defective factory, the FMR1 gene cannot manufacture the essential protein that it normally makes. These people do not show symptoms of Fragile X, or show only mild characteristics. Fragile X is inherited. Carrier men pass the gene defect to all their daughters but none of their sons. The Fragile X permutation can be passed silently down through generations in a family before a child is affected by the syndrome.
Testing is done with a simple and accurate DNA based blood test.
Prenatal testing is also available. As public funding for medical research has been dramatically reduced, it is critical that private money is found to do the research so badly needed to bring help to children and families who carry the Fragile X gene. Wendy Roberts, Child Development Centre, The Hospital for Sick Children, Toronto. There is currently no cure for Fragile X, although appropriate education, management strategies and medication can help maximize the potential of each person. However, most people with Fragile X remain significantly affected throughout their lives.