Posted at October 31, 2012 | By: | Categories: Fragile Xtras,Keeping You Informed | 4 Comments

Full Mutation, Premutation or No Mutation At All


Robert Miller
Executive Director
National Fragile X Foundation


Here in the Fragile X world we spend a lot of time parsing mutations, CGG repeat numbers and trying to define Fragile X. From a medical and scientific point of view, that effort is necessary so that clinicians and researchers can communicate with each other in a descriptive and mutually understood way. Defining things and being as specific as possible is absolutely essential in research and treatment.

But, in my experience, it’s a different story in the world of families. In families, members want to know who is affected, what the symptoms and prognosis are, what types of treatments and interventions are available, who else in the extended family is at risk to be affected, and what steps can be taken to minimize the effects. Whether your concern is fragile X syndrome, fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency or any other medical, psychological or learning problem that some researchers are increasingly suggesting may be the result of a Fragile X mutation, the NFXF will do its best to keep you informed of what the evidence is and where consensus about treatment exists (and where it does not). (See: Consensus Documents on Clinical Practices.)

The above is one reason why the NFXF recently awarded grants to Stephanie Sherman at Emory University and David Hessl at the UC Davis MIND Institute. Dr. Sherman is attempting to better understand the health consequences of the FMR1 premutation in women. Dr. Hessl will be undertaking a project to extend autism behavioral intervention to young children with fragile X syndrome.

Recently, some researchers have found evidence that FMRP (the protein that the FX gene controls) plays a role in autism that is not associated with fragile X syndrome or the Fragile X mutation. This is intriguing and makes a strong case for breaking down the barriers between autism research and Fragile X research. Combined with the aforementioned research on carriers, I think we are seeing the blurring of the boundaries between the full mutation, the premutation and having no mutation at all. The story about what constitutes Fragile X is still an open book, awaiting further research.