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To whom it may concern:
A member of your family has been identified as having a condition called Fragile X
syndrome or is a carrier of a mutation of the Fragile X gene. This means that other family
members may be at risk to be a carrier of this gene change and /or to have children
with Fragile X syndrome. This letter has been sent to you to summarize information
regarding the Fragile X gene and Fragile X syndrome.
Fragile X syndrome is the most common form of inherited developmental disability. It can
occur in both males and females, though females often have milder features, both
physical and cognitive, than males. Affected individuals can have intellectual difficulties
ranging from learning disabilities to mental impairment and autism. Other characteristics
include repetitive speech, hyperactivity, and poor eye contact. Physical characteristics
include large ears, flexible joints and long facial shape.
Fragile X syndrome is caused by a genetic change or mutation in a gene on the X
chromosome called the FMR1 gene. An individual may carry a normal size gene, a
“premutation” size gene or a “full mutation” size gene. Individuals with Fragile X
syndrome have a full mutation gene.
For a woman who carries a premutation, this can – but doesn’t always – expand to a full
mutation when passed from a mother to her children.
For a man who carries a premutation, this premutation is always passed on to a
daughter, but never passed on to a son. This means that all of the daughters of male
carriers will be carriers themselves, and at risk of passing on the full mutation to their
children.
Individuals who are premutation carriers are usually not affected with Fragile X syndrome.
However, female carriers can experience early menopause and/or reduced fertility.
Male carriers (and more rarely female carriers) may develop a late onset (over 50)
neurological condition called FXTAS, which is often misdiagnosed as Parkinson's disease
and/or Alzheimer’s disease. Therefore, even if you are not planning to have children or
have already had them, this genetic testing may have implications for your health as
well.
Since 1991 a DNA test, the FMR1 gene test, has been available. This test is extremely
reliable in detecting both the premutation and the full mutation.
Since a member of your family has been identified as carrying this gene change, you,
and your children (if you have any), may also carry this changed gene.
Therefore it is recommended that you and /or your children contact a doctor to discuss
your family history and the possibility of genetic testing. Your doctor or other health care
provider can order this testing by requesting the FMR1 DNA test.
We hope this information is of help to you. Should you have any questions, or wish to
discuss this letter, or your (or your child’s) risks for any of the conditions discussed here,
please feel free to call the Fragile X Research Foundation of Canada at (905) 453-9366,
or email the Foundation at info@fragilexcanada.ca.
Sincerely,
Your Name Here